Syndromic intellectual disability and developmental delay caused by novel de novo truncating variant in AHDC1 gene

Introduction: Xia-Gibbs syndrome is a rare genetic disorder with autosomal dominant inheritance caused by heterozygous mutations in AHDC1 gene. This condition is characterized by neurological manifestations that include psychomotor delayed, intellectual disability and corpus callosum hypoplasia with...

Full description

Autores:

Diaz Ordoñez, L.
Ramirez Montaño, D.
Cruz, S.
Pachajoa, H.

Tipo de recurso:

Article of journal

Fecha de publicación:

2019

Institución:

Universidad El Bosque

Repositorio:

Repositorio U. El Bosque

Idioma:

eng

OAI Identifier:

oai:repositorio.unbosque.edu.co:20.500.12495/7383

Acceso en línea:

http://hdl.handle.net/20.500.12495/7383

Palabra clave:

Síndrome de Xia-Gibbs
Trastornos genéticos
Gen AHDC1
Estudio de caso
Análisis cromosómico
Xia–Gibbs syndrome
Genetic disorders
AHDC1 gene
Case study

Rights

openAccess

License

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