Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients.

Ostrowski, Philip J

Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients. [electronic resource] - American journal of medical genetics. Part C, Seminars in medical genetics 12 2019 - 638-643 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1552-4876

10.1002/ajmg.c.31750 doi


Adolescent
Child
Gene Deletion
Genetic Diseases, X-Linked--genetics
Humans
Intellectual Disability--genetics
Male
Megalencephaly--genetics
Obesity--genetics
Severity of Illness Index
Syndrome
Transcription Factors--genetics