Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene

BACKGROUND: Hypoparathyroidism in children is a heterogeneous group with diverse genetic etiologies. To aid clinicians in the investigation and management of children with hypoparathyroidism, we describe the phenotype of a 6-year-old child with hypoparathyroidism and short stature diagnosed with Ken...

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Detalhes bibliográficos
Publicado no:Int J Pediatr Endocrinol
Main Authors: Abraham, Mary B., Li, Dong, Tang, Dave, O’Connell, Susan M., McKenzie, Fiona, Lim, Ee Mun, Hakonarson, Hakon, Levine, Michael A., Choong, Catherine S.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5264330/
https://ncbi.nlm.nih.gov/pubmed/28138333
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13633-016-0041-7
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