Blepharophimosis, short humeri, developmental delay and hirschsprung disease: Expanding the phenotypic spectrum ofMED12mutations
about
Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)].A novel MED12 mutation associated with non-specific X-linked intellectual disability.Hirschsprung's disease: clinical dysmorphology, genes, micro-RNAs, and future perspectives.Clinical Variability in Familial X-Linked Ohdo Syndrome-Maat-Kievit-Brunner Type with MED12 Mutation.A novel MED12 mutation: Evidence for a fourth phenotype.Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.
P2860
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: Expanding the phenotypic spectrum ofMED12mutations
description
article
@en
im April 2014 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована у квітні 2014
@uk
name
Blepharophimosis, short humeri ...... ypic spectrum ofMED12mutations
@en
Blepharophimosis, short humeri ...... ypic spectrum ofMED12mutations
@nl
type
label
Blepharophimosis, short humeri ...... ypic spectrum ofMED12mutations
@en
Blepharophimosis, short humeri ...... ypic spectrum ofMED12mutations
@nl
prefLabel
Blepharophimosis, short humeri ...... ypic spectrum ofMED12mutations
@en
Blepharophimosis, short humeri ...... ypic spectrum ofMED12mutations
@nl
P2093
P2860
P50
P356
P1476
Blepharophimosis, short humeri ...... ypic spectrum ofMED12mutations
@en
P2093
Albert David
Anna Pelet
Bertrand Isidor
Claudine Le Vaillant
Cédric Le Caignec
Frédéric Jossic
Gaëlle Caillaud
Guntram Borck
Laurence Faivre
Madeleine Joubert
P2860
P304
P356
10.1002/AJMG.A.36539
P407
P577
2014-04-08T00:00:00Z