MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome.
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Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc colobomaMutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndromeGoltz syndrome (focal dermal hypoplasia) with unilateral ocular, cutaneous and skeletal features: case report.Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlapMicrophthalmia with Linear Skin Defects (MLS) associated with Autism Spectrum Disorder (ASD) in a patient with Familial 12.9Mb Terminal Xp deletionMutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome.Eye development genes and known syndromesFamilial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome.Pitfalls in the diagnosis of left ventricular hypertrabeculation/non-compaction.Relations between age, weight, refractive error and eye shape by computerized tomography in childrenHistiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11.Dermatoscopic aspects of the microphthalmia with linear skin defects (MLS) syndrome.Focal dermal hypoplasia: updates.Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome.XLMR genes: update 1996.Xp microdeletion syndrome characterized by pathognomonic linear skin defects on the head and neck.Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32.Dohi Memorial Lecture. New aspects of cutaneous mosaicism.Fourteen-month-old girl with facial skin thinning.Microphthalmia with linear skin defects syndrome.Anterior segment developmental anomalies in a 33-week-old fetus with MIDAS syndrome.Reticulolinear aplasia cutis congenita of the face and neck: a distinctive cutaneous manifestation in several syndromes linked to Xp22.Etiologies of uterine malformations.Sclerocornea associated with the chromosome 22q11.2 deletion syndrome.Aplasia Cutis Congenita of the Scalp in a Female Infant With Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome Negative forSOX2Mutation
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P2860
MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome.
description
1993 nî lūn-bûn
@nan
1993 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
MIDAS syndrome (microphthalmia ...... distinct from Goltz syndrome.
@ast
MIDAS syndrome (microphthalmia ...... distinct from Goltz syndrome.
@en
MIDAS syndrome (microphthalmia ...... distinct from Goltz syndrome.
@nl
type
label
MIDAS syndrome (microphthalmia ...... distinct from Goltz syndrome.
@ast
MIDAS syndrome (microphthalmia ...... distinct from Goltz syndrome.
@en
MIDAS syndrome (microphthalmia ...... distinct from Goltz syndrome.
@nl
prefLabel
MIDAS syndrome (microphthalmia ...... distinct from Goltz syndrome.
@ast
MIDAS syndrome (microphthalmia ...... distinct from Goltz syndrome.
@en
MIDAS syndrome (microphthalmia ...... distinct from Goltz syndrome.
@nl
P2093
P356
P1476
MIDAS syndrome (microphthalmia ...... distinct from Goltz syndrome.
@en
P2093
P304
P356
10.1002/AJMG.1320470525
P577
1993-10-01T00:00:00Z