Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies.
about
Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defectsMutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndromeTranscriptional activation of the SALL1 by the human SIX1 homeodomain during kidney developmentTowards a molecular understanding of Drosophila hearingDrosophila spalt/spalt-related mutants exhibit Townes-Brocks' syndrome phenotypes.Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans.Townes-Brocks syndrome.Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks SyndromeLethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome.Oculoauriculovertebral spectrum and cerebral anomalies.'Inside-out', back-to-front: a model for clinical population genetic screening.The Townes-Brocks syndrome.The aetiology of the cat eye syndrome reconsidered.Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) syndrome?Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease.SALL1 mutations in Townes-Brocks syndrome and related disorders.Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene.Genomewide scan for anal atresia in swine identifies linkage and association with a chromosome region on Sus scrofa chromosome 1.Anorectal malformation: familial aspects and associated anomalies.Sall1 regulates cortical neurogenesis and laminar fate specification in mice: implications for neural abnormalities in Townes-Brocks syndrome.Loss of the Sall3 gene leads to palate deficiency, abnormalities in cranial nerves, and perinatal lethality.TOWNES-BROCKS SYNDROME: REPORT OF THREE ADDITIONAL PATIENTS WITH PREVIOUSLY UNDESCRIBED RENAL AND CARDIAC ABNORMALITIES.Associations of anorectal malformations and related syndromes.From ureteric bud to the first glomeruli: genes, mediators, kidney alterations.Anorectal malformation: the etiological factors.A review of genetic factors contributing to the etiopathogenesis of anorectal malformations.Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation.Partial chromosome 7 duplication with a phenotype mimicking the HOXA1 spectrum disorder.Hearing loss in Townes-Brocks syndrome.Townes syndrome. A distinct multiple malformation syndrome resembling VACTERL association.Identification of a prosencephalic-specific enhancer of SALL1: comparative genomic approach using the chick embryo.Genome-wide association study identifies nine novel loci for 2D:4D finger ratio, a putative retrospective biomarker of testosterone exposure in utero.Deletion upstream of SALL1 producing Townes-Brocks syndrome.Endocrine abnormalities in Townes-Brocks syndrome.
P2860
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P2860
Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies.
description
1972 nî lūn-bûn
@nan
1972 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1972 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1972年の論文
@ja
1972年論文
@yue
1972年論文
@zh-hant
1972年論文
@zh-hk
1972年論文
@zh-mo
1972年論文
@zh-tw
1972年论文
@wuu
name
Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies.
@ast
Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies.
@en
Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies.
@nl
type
label
Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies.
@ast
Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies.
@en
Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies.
@nl
prefLabel
Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies.
@ast
Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies.
@en
Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies.
@nl
P1476
Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies.
@en
P2093
P304
P356
10.1016/S0022-3476(72)80302-0
P407
P577
1972-08-01T00:00:00Z