Connective tissue involvement in two patients with features of cranioectodermal dysplasia
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference18 articles.
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3. The dominant and recessive forms of cutis laxa;Beighton;J Med Genet,1972
4. Pigmentosum retinis and tubulo-interstitial nephronophtisis in Sensenbrenner syndrome: A case report;Costet;J Fr Ophtalmol,2000
5. A new oculorenal syndrome: Retinal dystrophy and tubulointerstitial nephropathy in cranioectodermal dysplasia;Eke;Br J Ophthalmol,1996
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2. Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35;American Journal of Medical Genetics Part A;2020-08-17
3. Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia;Cilia;2017-04-10
4. NovelIFT122mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum;American Journal of Medical Genetics Part A;2016-01-21
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