Molecular characterization in a case of isolated growth hormone deficiency and further prenatal diag...
Molecular characterization in a case of isolated growth hormone deficiency and further prenatal diagnosis of an unborn sibling
About this item
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Publisher
India: Medknow Publications and Media Pvt. Ltd
Journal title
Language
English
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Publisher
India: Medknow Publications and Media Pvt. Ltd
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Scope and Contents
Contents
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 deletion of the GH1 gene was identified by real-time/qu...
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Full title
Molecular characterization in a case of isolated growth hormone deficiency and further prenatal diagnosis of an unborn sibling
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3897147
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3897147
Other Identifiers
ISSN
0971-6866
E-ISSN
1998-362X
DOI
10.4103/0971-6866.124380
