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Arachnodactyly, aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed developmental milestones

Two male cousins are reported with arachnodactyly, selective aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed developmental milestones, and a distant female relative with similar abnormalities. The syndrome is thought to be previously undescribed, though it has resemblances to Mar...

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Detalles Bibliográficos
Main Authors: Bhaskar, P. A., Jagannathan, K., Valmikinathan, K.
Formato: Artigo
Idioma:Inglês
Publicado: 1974
Assuntos:
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1083643/
https://ncbi.nlm.nih.gov/pubmed/4448994
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