Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes

Summary Objectives The aetiology of congenital hypopituitarism (CH) is unknown in most patients. Rare copy number variants (CNVs) have been implicated as the cause of genetic syndromes with previously unknown aetiology. Our aim was to study the presence of CNVs and their pathogenicity in patients wi...

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Veröffentlicht in:	Clinical endocrinology (Oxford) 2018-03, Vol.88 (3), p.425-431
Hauptverfasser:	Correa, Fernanda A., Jorge, Alexander AL, Nakaguma, Marilena, Canton, Ana PM, Costa, Silvia S, Funari, Mariana F, Lerario, Antonio M, Franca, Marcela M, Carvalho, Luciani R, Krepischi, Ana CV, Arnhold, Ivo JP, Rosenberg, Carla, Mendonca, Berenice B
Format:	Artikel
Sprache:	eng
Schlagworte:	Chromosome 3 Chromosome deletion combined pituitary hormone deficiencies Copy number copy number variants Gene deletion growth hormone deficiency Heart diseases Hybridization Hypopituitarism Intellectual disabilities Pathogenicity Patients Phenotypes Pituitary Pituitary hormones trichorhinophalangeal syndrome
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