Syndrome of polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation in endogamic gypsies.
about
Joubert Syndrome and related disordersMutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromesUpdate on oral-facial-digital syndromes (OFDS)Prevalence of congenital anomaly syndromes in a Spanish gypsy population.Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.Syndrome of polydactyly, cleft lip, lingual hamartomas, renal hypoplasia, hearing loss, and psychomotor retardation: variant of the Mohr syndrome or a new syndrome?Orocardiodigital syndrome: an oral-facial-digital type II variant associated with atrioventricular canalPallister-Hall syndrome.Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands.The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders.Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.Varadi Papp syndrome, an unusual variant of oral-facial-digital syndrome: Report of a rare case.Orofaciodigital syndrome type-VI (Varadi-Papp syndrome) with several Y-shaped metacarpals.Unknown syndrome: microcephaly, facial clefting, and preaxial polydactyly.Another case of microcephaly, facial clefting, and preaxial polydactyly.Oral-facial-digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum.Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.
P2860
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P2860
Syndrome of polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation in endogamic gypsies.
description
1980 nî lūn-bûn
@nan
1980 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1980 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1980年の論文
@ja
1980年論文
@yue
1980年論文
@zh-hant
1980年論文
@zh-hk
1980年論文
@zh-mo
1980年論文
@zh-tw
1980年论文
@wuu
name
Syndrome of polydactyly, cleft ...... ardation in endogamic gypsies.
@ast
Syndrome of polydactyly, cleft ...... ardation in endogamic gypsies.
@en
type
label
Syndrome of polydactyly, cleft ...... ardation in endogamic gypsies.
@ast
Syndrome of polydactyly, cleft ...... ardation in endogamic gypsies.
@en
prefLabel
Syndrome of polydactyly, cleft ...... ardation in endogamic gypsies.
@ast
Syndrome of polydactyly, cleft ...... ardation in endogamic gypsies.
@en
P2093
P2860
P356
P1476
Syndrome of polydactyly, cleft ...... tardation in endogamic gypsies
@en
P2093
P2860
P304
P356
10.1136/JMG.17.2.119
P407
P577
1980-04-01T00:00:00Z