Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?

We describe a family with four members, a mother, two sons, and a daughter, who show clinical features consistent with X linked Alport syndrome. The two males presented with additional features including mental retardation, dysmorphic facies with marked midface hypoplasia, and elliptocytosis. The el...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Jonsson, J J, Renieri, A, Gallagher, P G, Kashtan, C E, Cherniske, E M, Bruttini, M, Piccini, M, Vitelli, F, Ballabio, A, Pober, B R
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 1998
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051272/
https://ncbi.nlm.nih.gov/pubmed/9598718
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg