Novel Nonsense Mutation in ASXL3 causing Bainbridge-Ropers Syndrome
Indian Pediatr
;
2019 Sep; 56(9): 792-794
Article
| IMSEAR
| ID: sea-199391
ABSTRACT
Background:
Bainbridge-Ropers syndrome is a rare autosomal dominant genetic disorder.Case characteristics A 26-day-old neonate presented with feeding difficulties, excessivesleeping, and hirsutism over forehead and lumbosacral skin.Outcome:
Whole-exomesequencing identified a novel nonsensemutation. Message We report a novel mutation ina Chinese neonate with Bainbridge-Ropers syndrome.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Journal:
Indian Pediatr
Year:
2019
Type:
Article
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