Microphthalmia with linear skin defects: a case report and review.
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Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial diseaseExpanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.Microphthalmia 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.Whole exome sequence analysis of Peters anomaly.Mitochondrial cytochrome c biogenesis: no longer an enigma.Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome.The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes.Fourteen-month-old girl with facial skin thinning.Systematized organoid epidermal nevus with eccrine differentiation, multiple facial and oral congenital scars, gingival synechiae, and blepharophimosis: A novel epidermal nevus syndrome
P2860
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P2860
Microphthalmia with linear skin defects: a case report and review.
description
article científic
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article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on September 2008
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Microphthalmia with linear skin defects: a case report and review.
@en
Microphthalmia with linear skin defects: a case report and review.
@nl
type
label
Microphthalmia with linear skin defects: a case report and review.
@en
Microphthalmia with linear skin defects: a case report and review.
@nl
prefLabel
Microphthalmia with linear skin defects: a case report and review.
@en
Microphthalmia with linear skin defects: a case report and review.
@nl
P2093
P1476
Microphthalmia with linear skin defects: a case report and review.
@en
P2093
Arlene M Ruiz de Luzuriaga
Darrel Waggoner
Mark Greenwald
Sarah L Stein
Vishakha M Sharma
P304
P356
10.1111/J.1525-1470.2008.00724.X
P577
2008-09-01T00:00:00Z