First reported cases with Xia-Gibbs syndrome from India harboring novel variants in AHDC1.
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| Title: | First reported cases with Xia-Gibbs syndrome from India harboring novel variants in AHDC1. |
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| Authors: | Danda S; Department of Medical Genetics, Christian Medical College and Hospital, Vellore, India., Datar C; Department of Paediatrics, Genetics Unit, Bharati Vidyapeeth Medical College and Hospital, Pune, India., Kher A; Department of Paediatrics, Genetics Unit, Bharati Vidyapeeth Medical College and Hospital, Pune, India., Deshpande T; Department of Paediatrics, Genetics Unit, Bharati Vidyapeeth Medical College and Hospital, Pune, India., Thomas MM; Department of Paediatric Neurology, Christian Medical College and Hospital, Vellore, India., Oommen SP; Department of Developmental Paediatrics, Christian Medical College and Hospital, Vellore, India. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2022 Aug; Vol. 188 (8), pp. 2501-2504. Date of Electronic Publication: 2022 May 21. |
| Publication Type: | Case Reports; Research Support, Non-U.S. Gov't; Journal Article |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.62844 |
