Conradi–Hünermann–Happle syndrome associated with severe hypocalcemia in a newborn

Conradi–Hünermann–Happle syndrome is rare X‐linked dominant syndrome associated with stippled epiphyseal calcifications, congenital cataracts, Blaschkoid ichthyosiform scaling, and follicular atrophoderma. This case describes a novel finding of hypocalcemia and hypoparathyroidism in an infant with C...

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Detalles Bibliográficos
Autores principales: Dykman, Morgan, Voller, Lindsey Marie, Boull, Christina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Brief Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9544603/
https://www.ncbi.nlm.nih.gov/pubmed/35355312
http://dx.doi.org/10.1111/pde.14979

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9544603/
https://www.ncbi.nlm.nih.gov/pubmed/35355312
http://dx.doi.org/10.1111/pde.14979

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