De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies

De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies

Item
http://www.wikidata.org/entity/Q33596991
Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3.Focal dermal hypoplasia (Goltz syndrome).Deletion Xp22.3.Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome.Chromosome abnormalities and the genetics of congenital corneal opacification.Eye development genes and known syndromesFamilial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome.Dermatoscopic aspects of the microphthalmia with linear skin defects (MLS) syndrome.Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome.Microphthalmia, marked short stature, hearing loss, and developmental delay: extension of the phenotype of GOMBO syndrome?Encephalocraniocutaneous lipomatosis and oculocerebrocutaneous syndrome. A differential diagnostic problem?Reticulolinear aplasia cutis congenita of the face and neck: a distinctive cutaneous manifestation in several syndromes linked to Xp22.A mosaic form of microphthalmia with linear skin defects
P2860

De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies

Item
http://www.wikidata.org/entity/Q33596991
description
1990 nî lūn-bûn
@nan
1990 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
name
De novo deletion of Xp22.2-pte ...... anterior chamber eye anomalies
@ast
De novo deletion of Xp22.2-pte ...... anterior chamber eye anomalies
@en
type
label
De novo deletion of Xp22.2-pte ...... anterior chamber eye anomalies
@ast
De novo deletion of Xp22.2-pte ...... anterior chamber eye anomalies
@en
prefLabel
De novo deletion of Xp22.2-pte ...... anterior chamber eye anomalies
@ast
De novo deletion of Xp22.2-pte ...... anterior chamber eye anomalies
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
De novo deletion of Xp22.2-pte ...... anterior chamber eye anomalies
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932