{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T14:52:27Z","timestamp":1753887147751,"version":"3.41.2"},"reference-count":12,"publisher":"Walter de Gruyter GmbH","issue":"0","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2021-0229_abs_001_w2aab3b7b1b1b6b1aab1c12b1Aa\">\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>To evaluate the cause of short stature in children.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0229_abs_002_w2aab3b7b1b1b6b1aab1c12b2Aa\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>Two children with suspected skeletal dysplasia and short stature were evaluated.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0229_abs_003_w2aab3b7b1b1b6b1aab1c12b3Aa\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>The 3-M syndrome is a primordial growth disorder manifesting severe postnatal growth restriction, skeletal anomalies and prominent fleshy heels. The 3-M syndrome is a genetically heterogeneous disorder and the phenotype is similar. This is a rare autosomal recessive disorder with normal intellect. Two affected children have been identified by whole-exome sequencing. One patient harboured a compound heterozygous variant and the other was a homozygous missense variant. The genetic diagnosis helped in counselling the families and facilitated prenatal diagnosis in one (case 1) family.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2021-0412","type":"journal-article","created":{"date-parts":[[2021,10,22]],"date-time":"2021-10-22T02:34:17Z","timestamp":1634870057000},"source":"Crossref","is-referenced-by-count":0,"title":["3-M syndrome\u00a0\u2013 a primordial short stature disorder with novel <i>CUL7<\/i> mutation in two Indian patients"],"prefix":"10.1515","volume":"0","author":[{"given":"Radha Rama Devi","family":"Akella","sequence":"first","affiliation":[{"name":"Rainbow Children Hospital , Road No 2, Banjara Hills , Hyderabad , India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2021,10,22]]},"reference":[{"key":"2021122910370352600_j_jpem-2021-0412_ref_001_w2aab3b7b1b1b6b1ab2b1b1Aa","unstructured":"Miller, JD, McKusick, VA, Malvaux, P, Temtamy, S, Salinas, C. The 3-M syndrome: a heritable low birthweight dwarfism. Birth Defects 1975;11:39\u201347."},{"key":"2021122910370352600_j_jpem-2021-0412_ref_002_w2aab3b7b1b1b6b1ab2b1b2Aa","doi-asserted-by":"crossref","unstructured":"Hanson, D, Murray, PG, O\u2019Sullivan, J, Urquhart, J, Daly, S, Bhaskar, SS, et al.. CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth. Am J Hum Genet 2011;89:148\u201353. https:\/\/doi.org\/10.1016\/j.ajhg.2011.05.028.","DOI":"10.1016\/j.ajhg.2011.05.028"},{"key":"2021122910370352600_j_jpem-2021-0412_ref_003_w2aab3b7b1b1b6b1ab2b1b3Aa","doi-asserted-by":"crossref","unstructured":"Huber, C, Munnich, A, Cormier-Daire, V. The 3M syndrome. Best Pract Res Clin Endocrinol Metabol 2011;25:143\u201351. https:\/\/doi.org\/10.1016\/j.beem.2010.08.015.","DOI":"10.1016\/j.beem.2010.08.015"},{"key":"2021122910370352600_j_jpem-2021-0412_ref_004_w2aab3b7b1b1b6b1ab2b1b4Aa","doi-asserted-by":"crossref","unstructured":"Patton, MA. Russell-Silver syndrome. J Med Genet 1988;25:557\u201360. https:\/\/doi.org\/10.1136\/jmg.25.8.557.","DOI":"10.1136\/jmg.25.8.557"},{"key":"2021122910370352600_j_jpem-2021-0412_ref_005_w2aab3b7b1b1b6b1ab2b1b5Aa","doi-asserted-by":"crossref","unstructured":"Shaikh, S, Suresh, K, Shettigari, G, Kantharia, S, Kurva, J, Cherian, S, et al.. Novel mutation in Cul7 gene in a family diagnosed with 3M syndrome. J\u00a0Genet 2019;98:21. https:\/\/doi.org\/10.1007\/s12041-019-1057-6.","DOI":"10.1007\/s12041-019-1057-6"},{"key":"2021122910370352600_j_jpem-2021-0412_ref_006_w2aab3b7b1b1b6b1ab2b1b6Aa","doi-asserted-by":"crossref","unstructured":"Kumar, MH, Kumar, MS, Siva Kumar, V, Sabitha Hari, Kumar. An adult with 3-M syndrome. BMJ Case Rep 2015;1\u20133. https:\/\/doi.org\/10.1136\/bcr-2015-211429.","DOI":"10.1136\/bcr-2015-211429"},{"key":"2021122910370352600_j_jpem-2021-0412_ref_007_w2aab3b7b1b1b6b1ab2b1b7Aa","doi-asserted-by":"crossref","unstructured":"Hanson, D, Murray, PG, Coulson, T, Sud, A, Omokanye, A, Stratta, E, et al.. Mutations in CULT7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factorsignalling. J Mol Endocrinol 2012;49:267\u201375. https:\/\/doi.org\/10.1530\/jme-12-0034.","DOI":"10.1530\/JME-12-0034"},{"key":"2021122910370352600_j_jpem-2021-0412_ref_008_w2aab3b7b1b1b6b1ab2b1b8Aa","doi-asserted-by":"crossref","unstructured":"Maksimova, N, Hara, K, Miyashia, A, Nikolaeva, I, Shiga, A, Nogovicina, A, et al.. Clinical, molecular and histopathological features of SS syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia. Med Genet 2007;44(12):772\u20138. https:\/\/doi.org\/10.1136\/jmg.2007.051979.","DOI":"10.1136\/jmg.2007.051979"},{"key":"2021122910370352600_j_jpem-2021-0412_ref_009_w2aab3b7b1b1b6b1ab2b1b9Aa","doi-asserted-by":"crossref","unstructured":"Keskin, M, \u015eahin, NM, Kurnaz, E, Bayramo\u011flu, E, Erdeve, \u015eS, et al.. A rare cause of short stature: 3M syndrome in a patient with novel mutation in OBSL1 gene. J Clin Res Pediatr Endocrinol 2017;9(1):91\u20134. https:\/\/doi.org\/10.4274\/jcrpe.3238.","DOI":"10.4274\/jcrpe.3238"},{"key":"2021122910370352600_j_jpem-2021-0412_ref_010_w2aab3b7b1b1b6b1ab2b1c10Aa","doi-asserted-by":"crossref","unstructured":"Van der Wala, G, Otten, BJ, Brunner, HG, van der Burgt, I. 3-M syndrome: description of six new patients with review of the literature. Clin Dysmorphol 2001;10(4):241\u201352. https:\/\/doi.org\/10.1097\/00019605-200110000-00002.","DOI":"10.1097\/00019605-200110000-00002"},{"key":"2021122910370352600_j_jpem-2021-0412_ref_011_w2aab3b7b1b1b6b1ab2b1c11Aa","doi-asserted-by":"crossref","unstructured":"Demir, K, Alt\u0131nc\u0131k, A, B\u00f6ber, E. Severe short stature due to 3-M syndrome with a novel OBSL1 gene mutation. Pediatr Endocrinol Metab 2013;26(1-2):147\u201350. https:\/\/doi.org\/10.1515\/jpem-2012-0239.","DOI":"10.1515\/jpem-2012-0239"},{"key":"2021122910370352600_j_jpem-2021-0412_ref_012_w2aab3b7b1b1b6b1ab2b1c12Aa","doi-asserted-by":"crossref","unstructured":"G\u00fcven, A, Nurcan Cebeci, A. 3M syndrome: a report of four cases in two families. Clin Res Pediatr Endocrinol 2011;3(3):154\u20139. https:\/\/doi.org\/10.4274\/jcrpe.v3i3.30.","DOI":"10.4274\/jcrpe.v3i3.30"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2021-0412\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2021-0412\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,29]],"date-time":"2021-12-29T10:47:47Z","timestamp":1640774867000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2021-0412\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10,22]]},"references-count":12,"journal-issue":{"issue":"0","published-online":{"date-parts":[[2021,9,17]]}},"alternative-id":["10.1515\/jpem-2021-0412"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2021-0412","relation":{},"ISSN":["2191-0251","0334-018X"],"issn-type":[{"type":"electronic","value":"2191-0251"},{"type":"print","value":"0334-018X"}],"subject":[],"published":{"date-parts":[[2021,10,22]]},"article-number":"000010151520210412"}}