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X-linked mental retardation and severe short stature with a novel mutation of the KDM5C gene

Many monogenetic disorders of short stature have autosomal recessive/dominant form of inheritance. However, X-linked short stature has not been well recognized. Herein, we report a case of a boy from a family with familial severe short stature and mental retardation, who displayed an X-linked recess...

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Detalhes bibliográficos
Publicado no:Clin Pediatr Endocrinol
Main Authors: Kawano-Matsuda, Fumika, Maeda, Tomoki, Kaname, Tadashi, Yanagi, Kumiko, Ihara, Kenji
Formato: Artigo
Idioma:Inglês
Publicado em: The Japanese Society for Pediatric Endocrinology 2021
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7783125/
https://ncbi.nlm.nih.gov/pubmed/33446955
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1297/cpe.30.61
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