Recessive metaphyseal dysplasia without hypotrichosis. A syndrome clinically distinct from McKusick cartilage-hair hypoplasia.

Among children with recessive metaphyseal dysplasia involving the knees and extremities, two types can be distinguished. In true cartilage-hair hypoplasia, as described by McKusick, many patients show clinical hair involvement and variable immunodeficiency. We present a series of six patients with t...

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Main Authors: Verloes, A, Pierard, G E, Le Merrer, M, Maroteaux, P
Format: Artigo
Sprog:Inglês
Udgivet: 1990
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1017260/
https://ncbi.nlm.nih.gov/pubmed/2277385
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