STUDIES OF A FAMILY WITH THE ORAL-FACIAL-DIGITAL SYNDROME.
about
Identification of the gene for oral-facial-digital type I syndromeUpdate on oral-facial-digital syndromes (OFDS)Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complexX-chromosomal-linked diseases affecting the eye: status of the heterozygote female.Tongue lesions in the pediatric population.Oral-facial-digital syndrome, with polycystic kidneys and liver: pathological and cytogenetic studies.Orofaciodigital syndrome type I in a girl with unilateral tibial pseudarthrosisFamilial orofaciodigital syndrome type I presenting as adult polycystic kidney disease.Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum.Subcortical laminar heterotopia and lissencephaly in two families: a single X linked dominant gene.Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.Craniofacial abnormalities in homozygous Small eye (Sey/Sey) embryos and newborn miceKidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathwayPolycystic disease of kidney and liver presenting in childhoodOral-facial-digital syndrome.Further observations on a pedigree of the oral-facial-digital syndrome.Rare case of orofaciodigital syndrome type I.Cortical microcystic disease of the kidney with dominant inheritance: a previously undescribed syndrome.Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome.Oral-facial-digital syndrome type 1: oral features in 12 patients submitted to clinical and radiographic examination.Syndromes of facial clefting.Outcome of kidney transplantation in type I oral-facial-digital syndrome.Oral-facial-digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum.Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I).
P2860
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P2860
STUDIES OF A FAMILY WITH THE ORAL-FACIAL-DIGITAL SYNDROME.
description
1964 nî lūn-bûn
@nan
1964年の論文
@ja
1964年論文
@yue
1964年論文
@zh-hant
1964年論文
@zh-hk
1964年論文
@zh-mo
1964年論文
@zh-tw
1964年论文
@wuu
1964年论文
@zh
1964年论文
@zh-cn
name
STUDIES OF A FAMILY WITH THE ORAL-FACIAL-DIGITAL SYNDROME.
@en
STUDIES OF A FAMILY WITH THE ORAL-FACIAL-DIGITAL SYNDROME.
@nl
type
label
STUDIES OF A FAMILY WITH THE ORAL-FACIAL-DIGITAL SYNDROME.
@en
STUDIES OF A FAMILY WITH THE ORAL-FACIAL-DIGITAL SYNDROME.
@nl
prefLabel
STUDIES OF A FAMILY WITH THE ORAL-FACIAL-DIGITAL SYNDROME.
@en
STUDIES OF A FAMILY WITH THE ORAL-FACIAL-DIGITAL SYNDROME.
@nl
P2093
P1476
STUDIES OF A FAMILY WITH THE ORAL-FACIAL-DIGITAL SYNDROME.
@en
P2093
P304
P356
10.1056/NEJM196411192712101
P407
P577
1964-11-01T00:00:00Z