A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report

BACKGROUND: Kabuki syndrome is characterized by distinctive facial features and varying degrees of growth retardation. It leads to malformations in skeletal, urogenital and cardiac structures; moreover, endocrine conditions such as premature thelarche, precocious puberty, growth hormone deficiency,...

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Detalles Bibliográficos
Autores principales: Moon, Jung-Eun, Lee, Su-Jeong, Ko, Cheol Woo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007063/
https://www.ncbi.nlm.nih.gov/pubmed/29914387
http://dx.doi.org/10.1186/s12881-018-0606-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007063/
https://www.ncbi.nlm.nih.gov/pubmed/29914387
http://dx.doi.org/10.1186/s12881-018-0606-9

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