Clinical and molecular diagnosis of a cartilage‐hair hypoplasia with IGF‐1 deficiency

Cartilage‐hair hypoplasia syndrome (CHH) is a rare autosomal recessive condition characterized by metaphyseal chondrodysplasia and characteristic hair, together with a myriad of other symptoms, being most common immunodeficiency and gastrointestinal complications. A 15‐year‐old Mexican male initiall...

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Dades bibliogràfiques
Publicat a:Am J Med Genet A
Autors principals: Castilla‐Cortázar, Inma, Rodríguez De Ita, Julieta, Martín‐Estal, Irene, Castorena, Fabiola, Aguirre, Gabriel A., García de la Garza, Rocío, Elizondo, Martha I.
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2016
Matèries:
Clinical Reports
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6586044/
https://ncbi.nlm.nih.gov/pubmed/27862957
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38052
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