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Article

Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis.

American journal of medical genetics. Part A - 1 Jan 2011

Martínez-Frías M L, Egüés X, Puras A, Hualde J, de Frutos C A, Bermejo E, Nieto M A, Martínez S

Abstract excerpt

Thanatophoric dysplasia (TD) is a lethal form of short-limb skeletal dysplasia that is associated with macrocephaly, and variably cloverleaf skull. Two types of TD are clinically recognized, TD1 and TD2, mainly distinguished by their radiographic characteristics. The differences between the two are principally observed in the femur, which appears curved in TD1, while it remains straight but with a proximal medial...

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Share to Encephalocele
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptor, Fibroblast Growth Factor, Type 3

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Source

Identifiers

PMID: 21204232
DOI: 10.1002/ajmg.a.33765

Genes

FGFR3

Variants

Provenance

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