A de novo missense variant in MED13 in a patient with global developmental delay, marked facial dysmorphism, macroglossia, short stature, and macrocephaly.
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| Title: | A de novo missense variant in MED13 in a patient with global developmental delay, marked facial dysmorphism, macroglossia, short stature, and macrocephaly. |
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| Authors: | Rogers AP; Women's and Children's Hospital, Paediatric and Reproductive Genetics Unit, North Adelaide, South Australia, Australia., Friend K; Genetics and Molecular Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Rawlings L; Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia., Barnett CP; Women's and Children's Hospital, Paediatric and Reproductive Genetics Unit, North Adelaide, South Australia, Australia. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2021 Aug; Vol. 185 (8), pp. 2586-2592. Date of Electronic Publication: 2021 May 01. |
| Publication Type: | Case Reports; Letter |
| 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.62238 |
