Molecular characterization in a case of isolated growth hormone deficiency and further prenatal diagnosis of an unborn sibling

Familial isolated growth hormone deficiency (GHD) type 1 is characterized by an autosomal recessive pattern of inheritance with varying degrees of phenotypic severity. We report a proband, with isolated GHD (IGHD) with very early growth arrest and undetectable levels of GH. Homozygous complete delet...

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Detalles Bibliográficos
Autores principales: Nadar, Ruchi, Khatod, Kavita, Phadke, Nikhil, Datar, Chaitanya, Vaidya, Sujata, Khadilkar, Anuradha, Khadilkar, Vaman
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897147/
https://www.ncbi.nlm.nih.gov/pubmed/24497717
http://dx.doi.org/10.4103/0971-6866.124380

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897147/
https://www.ncbi.nlm.nih.gov/pubmed/24497717
http://dx.doi.org/10.4103/0971-6866.124380

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