Global developmental delay and postnatal microcephaly: Bainbridge-Ropers syndrome with a new mutation in ASXL3

Neurologia (Engl Ed). 2018 Sep;33(7):484-486. doi: 10.1016/j.nrl.2017.01.022. Epub 2017 Apr 18.

[Article in English, Spanish]

Authors

S N Contreras-Capetillo¹, Z H Vilchis-Zapata², J Ribbón-Conde³, D Pinto-Escalante²

Affiliations

¹ Laboratorio de Genética, Centro de Investigaciones Regionales Dr. Hideyo Noguchi, Mérida, Yucatán, México. Electronic address: silvina.contreras@uady.mx.
² Laboratorio de Genética, Centro de Investigaciones Regionales Dr. Hideyo Noguchi, Mérida, Yucatán, México.
³ Departamento de Neurología Pediátrica, Hospital General Regional #1, Instituto Mexicano del Seguro Social, Mérida, Yucatán, México.

PMID: 28431838
DOI: 10.1016/j.nrl.2017.01.022

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Child, Preschool
Developmental Disabilities / genetics*
Humans
Male
Microcephaly / genetics*
Mutation*
Phenotype
Transcription Factors / genetics*

Substances

ASXL3 protein, human
Transcription Factors