Three-generation pedigree of a Möbius syndrome variant with chromosome translocation
about
Deletion of chromosome 13 in Moebius syndrome.PLEXIN-D1, a novel plexin family member, is expressed in vascular endothelium and the central nervous system during mouse embryogenesisMendelian cytogenetics. Chromosome rearrangements associated with mendelian disordersMoebius syndromeOculofacialbulbar palsy in mother and son: review of 26 reports of familial transmission within the 'Möbius spectrum of defects'.Congenital abnormalities of cranial nerve development: overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements.A second gene for autosomal dominant Möbius syndrome is localized to chromosome 10q, in a Dutch familyNeuropsychiatric findings of Möbius sequence -- a review.A family with Huntington disease and reciprocal translocation 4;5.Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes.Management of a patient with Möbius syndrome: a case report.The genetics of strabismusDe novo mutations in PLXND1 and REV3L cause Möbius syndromeMobius syndrome: a dental hygiene case study and review of the literature.Orthopedic Manifestations of Mobius Syndrome: Case Series and Survey StudyA developmental and genetic classification for midbrain-hindbrain malformations.An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.Autism spectrum disorders: the quest for genetic syndromes.Examining the genetics of congenital facial paralysis--a closer look at Moebius syndrome.Moebius syndrome: animal model--human correlations and evidence for a brainstem vascular etiology.Variants of Möbius' syndrome and central neurologic impairment. Lindeman procedure in children.Moebius' syndrome with unilateral cerebellar hypoplasia.Moebius syndrome and hydrosyringomyelia: description of a new association.Möbius syndrome with cardiac rhabdomyomas.Atraumatic restorative technique: case report on dental management of a patient with Moebius syndrome.Möbius sequence, hypogenitalism, cerebral, and skeletal malformations in two brothers.Broad-spectrum Möbius syndrome associated with a 1;11 chromosome translocation.Möbius-like syndrome associated with a 1;2 chromosome translocationOverlap of Moebius and oromandibular limb hypogenesis syndrome with gastroschisis and pulmonary hypoplasia
P2860
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P2860
Three-generation pedigree of a Möbius syndrome variant with chromosome translocation
description
1977 nî lūn-bûn
@nan
1977 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1977 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1977年の論文
@ja
1977年論文
@yue
1977年論文
@zh-hant
1977年論文
@zh-hk
1977年論文
@zh-mo
1977年論文
@zh-tw
1977年论文
@wuu
name
Three-generation pedigree of a Möbius syndrome variant with chromosome translocation
@ast
Three-generation pedigree of a Möbius syndrome variant with chromosome translocation
@en
Three-generation pedigree of a Möbius syndrome variant with chromosome translocation
@nl
type
label
Three-generation pedigree of a Möbius syndrome variant with chromosome translocation
@ast
Three-generation pedigree of a Möbius syndrome variant with chromosome translocation
@en
Three-generation pedigree of a Möbius syndrome variant with chromosome translocation
@nl
prefLabel
Three-generation pedigree of a Möbius syndrome variant with chromosome translocation
@ast
Three-generation pedigree of a Möbius syndrome variant with chromosome translocation
@en
Three-generation pedigree of a Möbius syndrome variant with chromosome translocation
@nl
P2093
P1433
P1476
Three-generation pedigree of a Möbius syndrome variant with chromosome translocation
@en
P2093
P304
P356
10.1001/ARCHNEUR.1977.00500190071011
P407
P577
1977-07-01T00:00:00Z