Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.
about
A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia.Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.Goltz syndrome and PORCN: A view from Europe.Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature.Goltz syndrome in males: A clinical report of a male patient carrying a novel variant and a review of the literature
P2860
Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.
description
2014 nî lūn-bûn
@nan
2014 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Expanding the phenotypic spect ...... with syndromic microphthalmia.
@ast
Expanding the phenotypic spect ...... with syndromic microphthalmia.
@en
Expanding the phenotypic spect ...... with syndromic microphthalmia.
@nl
type
label
Expanding the phenotypic spect ...... with syndromic microphthalmia.
@ast
Expanding the phenotypic spect ...... with syndromic microphthalmia.
@en
Expanding the phenotypic spect ...... with syndromic microphthalmia.
@nl
prefLabel
Expanding the phenotypic spect ...... with syndromic microphthalmia.
@ast
Expanding the phenotypic spect ...... with syndromic microphthalmia.
@en
Expanding the phenotypic spect ...... with syndromic microphthalmia.
@nl
P2093
P2860
P356
P1476
Expanding the phenotypic spect ...... with syndromic microphthalmia.
@en
P2093
Anne Slavotinek
Guy Froyen
Hilde Van Esch
Jan Deprest
Joris R Vermeesch
Koenraad Devriendt
Nathalie Fieremans
Paul D Brady
P2860
P2888
P304
P356
10.1038/EJHG.2014.135
P577
2014-07-16T00:00:00Z
P6179
1011756803