A heritable syndrome of craniosynostosis, short thin hair, dental abnormalities, and short limbs: cranioectodermal dysplasia.
about
Cilia/Ift protein and motor -related bone diseases and mouse modelsExome sequencing identifies WDR35 variants involved in Sensenbrenner syndromeFuz mutant mice reveal shared mechanisms between ciliopathies and FGF-related syndromesCranioectodermal dysplasia (Sensenbrenner's syndrome).Cranioectodermal dysplasia in sibs.Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.Cranioectodermal dysplasia with sagittal craniosynostosis (Sensenbrenner's syndrome): case report and review of the literature.Current insights into renal ciliopathies: what can genetics teach us?WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.A new oculorenal syndrome: retinal dystrophy and tubulointerstitial nephropathy in cranioectodermal dysplasia.Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasiaMutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.Ciliary disorder of the skeleton.A role for primary cilia in aortic valve development and disease.Common skeletal features in rare diseases: New links between ciliopathies and FGF-related syndromes.A previously undescribed condition: tricho-odonto-onycho-dermal syndrome. A review of the tricho-odonto-onychial subgroup of ectodermal dysplasias.Role of Primary Cilia in Odontogenesis.Expanded phenotype of cranioectodermal dysplasia (Sensenbrenner syndrome)Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients.
P2860
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P2860
A heritable syndrome of craniosynostosis, short thin hair, dental abnormalities, and short limbs: cranioectodermal dysplasia.
description
1977 nî lūn-bûn
@nan
1977年の論文
@ja
1977年学术文章
@wuu
1977年学术文章
@zh-cn
1977年学术文章
@zh-hans
1977年学术文章
@zh-my
1977年学术文章
@zh-sg
1977年學術文章
@yue
1977年學術文章
@zh
1977年學術文章
@zh-hant
name
A heritable syndrome of cranio ...... s: cranioectodermal dysplasia.
@en
A heritable syndrome of cranio ...... s: cranioectodermal dysplasia.
@nl
type
label
A heritable syndrome of cranio ...... s: cranioectodermal dysplasia.
@en
A heritable syndrome of cranio ...... s: cranioectodermal dysplasia.
@nl
prefLabel
A heritable syndrome of cranio ...... s: cranioectodermal dysplasia.
@en
A heritable syndrome of cranio ...... s: cranioectodermal dysplasia.
@nl
P2093
P1476
A heritable syndrome of cranio ...... s: cranioectodermal dysplasia.
@en
P2093
P356
10.1016/S0022-3476(77)80764-6
P407
P577
1977-01-01T00:00:00Z