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Article

Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation.

Journal of the European Academy of Dermatology and Venereology : JEADV - 1 May 2016

Cossiez Cacard M A, Coulombe J, Bernard P, Kaci N, Bressieux J M, Souchon P F, Motte J, Legeai-Mallet L, Hadj-Rabia S, Eschard C

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Share to Acanthosis Nigricans
Share to Adolescent
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to FGFR3 gene

Share to Limb Deformities, Congenital

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Share to Receptor, Fibroblast Growth Factor, Type 3

Source

Identifiers

PMID: 25809207
DOI: 10.1111/jdv.13061

Genes

FGFR3

Variants

Provenance

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Related research

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Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation.PMID 25809207Read ↗

Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?Semantic proximity Read ↗

Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene.Semantic proximity Read ↗

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Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.Semantic proximity Read ↗

Fibroblast growth receptor-3 (FGFR3) G375C mutation in a case of achondroplasia and thanatophoric dysplasia phenotypic overlap.Semantic proximity Read ↗

Hypochondroplasia: molecular analysis of the fibroblast growth factor receptor 3 gene.Semantic proximity Read ↗

A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.Semantic proximity Read ↗

Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.Semantic proximity Read ↗

Fibroblast growth factor receptor 3 mutations in achondroplasia and related forms of dwarfism.Semantic proximity Read ↗

Autosomal dominant familial acanthosis nigricans caused by a C-terminal nonsense mutation of FGFR3.Semantic proximity Read ↗

Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation.Semantic proximity Read ↗

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