A carregar...

Spastic paraplegia, optic atrophy, microcephaly with normal intelligence, and XY sex reversal: a new autosomal recessive syndrome?

Two female sibs of first cousin Iranian parents were found to have the syndrome of spastic paraplegia, optic atrophy with poor vision, microcephaly, and normal cognitive development. Karyotype analysis showed a normal female constitution in one and a male constitution (46,XY) in the other. The XY fe...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Teebi, A S, Miller, S, Ostrer, H, Eydoux, P, Colomb-Brockmann, C, Oudjhane, K, Watters, G
Formato: Artigo
Idioma:Inglês
Publicado em: 1998
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051429/
https://ncbi.nlm.nih.gov/pubmed/9733035
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!