About: Developmental defects

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Attributs	Valeurs
type	Concept
rdfs:label	Developmental defects
skos:inScheme	http://hub.abes.fr/referentiel/bmjarticlecategories
is Subject of	A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia Phenotype and genotype in 101 males with X-linked creatine transporter deficiency Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations Bicuspid aortic valve and aortic coarctation are linked to deletion of the X chromosome short arm in Turner syndrome Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation A systematic review of associated structural and chromosomal defects in oral clefts: when is prenatal genetic analysis indicated? RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects Disruption of RAB40AL function leads to Martin-Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome Mutations of NANOS1, a human homologue of the Drosophila morphogen, are associated with a lack of germ cells in testes or severe oligo-astheno-teratozoospermia Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement A human laterality disorder associated with recessive CCDC11 mutation FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome ARHGDIA: a novel gene implicated in nephrotic syndrome Mutations in WNT10A are present in more than half of isolated hypodontia cases Mutation of HERC2 causes developmental delay with Angelman-like features EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia OTX2 mutations contribute to the otocephaly-dysgnathia complex Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus

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