{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T01:52:48Z","timestamp":1768269168402,"version":"3.49.0"},"reference-count":5,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,11,6]],"date-time":"2023-11-06T00:00:00Z","timestamp":1699228800000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>MAPK\u2010activating death domain protein (MADD) deficiency is associated with a broad clinical spectrum ranging from mild developmental impairment to fatal multisystem disorder. We report an additional case of severe form with some overlapping and unreported systemic features in a growth\u2010restricted full\u2010term male newborn. The novel findings include corpus callosum agenesis, bilateral adrenal agenesis, scrotal aplasia, and abnormal skin pigmentation. Microscopic changes are only remarkable in thyroid gland that shows decreased, variously sized follicles with absent or non\u2010vacuolated pale colloid. This unique constellation of birth defects is associated with a novel homozygous in\u2010frame <jats:italic>MADD<\/jats:italic> gene deletion (NM_003682.4: c.4853_4855delGCT:p.Cys1618del). This case report expands the phenotypic and genetic spectrum of MADD deficiency.<\/jats:p>","DOI":"10.1002\/ajmg.a.63463","type":"journal-article","created":{"date-parts":[[2023,11,7]],"date-time":"2023-11-07T05:34:42Z","timestamp":1699335282000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Calloso\u2010adreno\u2010scrotal agenesis associated with biallelic <scp>MAPK<\/scp>\u2010activating death domain protein (<scp>MADD<\/scp>) variant: Further phenotypic delineation of <scp>MADD<\/scp> deficiency"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3930-0011","authenticated-orcid":false,"given":"Sihem","family":"Darouich","sequence":"first","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine de Tunis, Universit\u00e9 de Tunis El Manar  Tunis Tunisia"},{"name":"Unit\u00e9 de Pathologie F\u0153tale et Placentaire CHU Habib Bougatfa  Bizerte Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samia","family":"Darouich","sequence":"additional","affiliation":[{"name":"Institut sup\u00e9rieur des Sciences Humaines de Tunis, Universit\u00e9 de Tunis El Manar  Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,11,6]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-021-00844-7"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-017-1843-2"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41380-017-0012-2"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.212035"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awaa204"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63463","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,13]],"date-time":"2024-02-13T09:56:08Z","timestamp":1707818168000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63463"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11,6]]},"references-count":5,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2024,3]]}},"alternative-id":["10.1002\/ajmg.a.63463"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63463","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,11,6]]},"assertion":[{"value":"2023-07-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-10-20","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-11-06","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63463"}}