{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:18Z","timestamp":1772160078179,"version":"3.50.1"},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,5,22]],"date-time":"2024-05-22T00:00:00Z","timestamp":1716336000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Skeletal dysplasias are a heterogeneous group of disorders presenting mild to lethal defects. Several factors, such as genetic, prenatal, and postnatal environmental may contribute to reduced growth. Fourteen families of Pakistani origin, presenting the syndromic form of short stature either in the autosomal recessive or autosomal dominant manner were clinically and genetically investigated to uncover the underlying genetic etiology. Homozygosity mapping, whole exome sequencing, and Sanger sequencing were used to search for the disease\u2010causing gene variants. In total, we have identified 13 sequence variants in 10 different genes. The variants in the\n                    <jats:italic>HSPG2<\/jats:italic>\n                    and\n                    <jats:italic>XRCC4<\/jats:italic>\n                    genes were not reported previously in the Pakistani population. This study will expand the mutation spectrum of the identified genes and will help in improved diagnosis of the syndromic form of short stature in the local population.\n                  <\/jats:p>","DOI":"10.1111\/cge.14550","type":"journal-article","created":{"date-parts":[[2024,5,22]],"date-time":"2024-05-22T03:29:45Z","timestamp":1716348585000},"page":"347-353","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Clinical and genetic investigation of 14 families with various forms of short stature syndromes"],"prefix":"10.1111","volume":"106","author":[{"given":"Fati Ullah","family":"Khan","sequence":"first","affiliation":[{"name":"Department of Biochemistry, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hammal","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islamabad Pakistan"},{"name":"Department of Biosciences COMSATS University Islamabad  Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kifayat","family":"Ullah","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shoaib","family":"Nawaz","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islamabad Pakistan"},{"name":"Department of Human Genetics\u2010Precision Medicine Program Sidra Medicine  Doha Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"family":"Abdullah","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islamabad 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Sharif","family":"Hasni","sequence":"additional","affiliation":[{"name":"Institute of Biochemistry University of Balochistan  Quetta Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hamid","family":"Ali","sequence":"additional","affiliation":[{"name":"Department of Biosciences COMSATS University Islamabad  Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad","family":"Bilal","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islamabad Pakistan"},{"name":"Institute for Medical Genetics and Applied Genomics Eberhard Karls University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susana","family":"Peralta","sequence":"additional","affiliation":[{"name":"Institute for Medical Genetics and Applied Genomics Eberhard Karls University of T\u00fcbingen  T\u00fcbingen 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Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad","family":"Zahid","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9464-9262","authenticated-orcid":false,"given":"Khadim","family":"Shah","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islamabad Pakistan"},{"name":"Department of Dermatology, Yale School of Medicine Yale University  New Haven Connecticut USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Outi","family":"Mikitie","sequence":"additional","affiliation":[{"name":"Clinical and Molecular Metabolism Research Program (CAMM), Faculty of Medicine University of Helsinki  Helsinki Finland"},{"name":"Folkh\u00e4lsan Research 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