Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder?
about
A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosisDonnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomyMutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromesPodocyte endocytosis in the regulation of the glomerular filtration barrierMutations in zebrafish lrp2 result in adult-onset ocular pathogenesis that models myopia and other risk factors for glaucomaGenetic aspects of human congenital diaphragmatic hernia.Genetic tools and algorithms for gene discovery in major congenital anomalies.Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH.Ocular manifestations of Donnai-Barrow syndrome.The bugeye mutant zebrafish exhibits visual deficits that arise with the onset of an enlarged eye phenotype.A pediatric surgeon retools in genetics and genomics to study congenital diaphragmatic herniaCochlear implantation in Donnai-Barrow syndrome.The role of maternal-fetal cholesterol transport in early fetal life: current insights.Development of the diaphragm -- a skeletal muscle essential for mammalian respiration.Retinal proliferation response in the buphthalmic zebrafish, bugeye.Assessment and Treatment of Self-Injurious Behavior Associated with Donnai-Barrow Syndrome.Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome: further evidence that the facio-oculo-acoustico-renal syndrome represents the same entity.Proximal Tubular Expression Patterns of Megalin and Cubilin in Proteinuric Nephropathies.Insight into the molecular genetics of myopia.408 kb 15q11.2 microduplication by array comparative genomic hybridization in a fetus presenting with exomphalos, micrognathia, tetralogy of Fallot and normal karyotype: a genetic counseling dilemma in paternal carrier status.Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?Potential teratogenic effects of allopurinol: a case report.Registry analysis supports different mechanisms for gastroschisis and omphalocele within shared developmental fields.Genetic Renal Diseases: The Emerging Role of Zebrafish Models
P2860
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P2860
Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder?
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
Diaphragmatic hernia, exomphal ...... autosomal recessive disorder?
@ast
Diaphragmatic hernia, exomphal ...... autosomal recessive disorder?
@en
Diaphragmatic hernia, exomphal ...... autosomal recessive disorder?
@es
Diaphragmatic hernia, exomphal ...... autosomal recessive disorder?
@nl
type
label
Diaphragmatic hernia, exomphal ...... autosomal recessive disorder?
@ast
Diaphragmatic hernia, exomphal ...... autosomal recessive disorder?
@en
Diaphragmatic hernia, exomphal ...... autosomal recessive disorder?
@es
Diaphragmatic hernia, exomphal ...... autosomal recessive disorder?
@nl
prefLabel
Diaphragmatic hernia, exomphal ...... autosomal recessive disorder?
@ast
Diaphragmatic hernia, exomphal ...... autosomal recessive disorder?
@en
Diaphragmatic hernia, exomphal ...... autosomal recessive disorder?
@es
Diaphragmatic hernia, exomphal ...... autosomal recessive disorder?
@nl
P356
P1476
Diaphragmatic hernia, exomphal ...... autosomal recessive disorder?
@en
P2093
P304
P356
10.1002/AJMG.1320470518
P577
1993-10-01T00:00:00Z