A novel homozygous variant in <i>DCHS1</i> in a Brazilian boy with clinical features of Van Maldergem syndrome

Advanced search

Search - Use quotation marks to get a more specific result

Index

Field of knowledge

Start date

Betweenand

A novel homozygous variant in DCHS1 in a Brazilian boy with clinical features of Van Maldergem syndrome

Full text
Author(s):	Correia-Costa, Gabriela ; Rodrigues, Bruna Fagundes ; Steiner, Carlos Eduardo ; Gil-da-Silva-Lopes, Vera Lucia ; Vieira, Tarsis Paiva Total Authors: 5
Document type:	Journal article
Source:	European Journal of Human Genetics; v. 32, p. 1-pg., 2024-12-01.

FAPESP's process:	22/05126-1 - Investigation of genetic causes of neuropsychomotor developmental delay/intellectual disability in individuals with suspicion of recessive inheritance disorders
Grantee:	Vera Lúcia Gil da Silva Lopes
Support Opportunities:	Regular Research Grants