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Titolo:
Deletion of the long arm of the Y chromosome in an adolescent with short stature and hypogonadism
Autore:
Botella-Carretero, JI; Valero, MA; Valcorba, I; Ezquieta, B; Alonso, M; Barrio, R;
Indirizzi:
Hosp Ramon y Cajal, Dept Pediat, Endocrinol Sect, E-28034 Madrid, Spain Hosp Ramon y Cajal Madrid Spain E-28034 inol Sect, E-28034 Madrid, Spain Hosp Ramon y Cajal, Dept Clin Genet, E-28034 Madrid, Spain Hosp Ramon y Cajal Madrid Spain E-28034 lin Genet, E-28034 Madrid, Spain Hosp La Paz, Dept Biochem, Sect Hormone Res, Madrid, Spain Hosp La Paz Madrid Spain Dept Biochem, Sect Hormone Res, Madrid, Spain
Titolo Testata:
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
fascicolo: 1, volume: 14, anno: 2001,
pagine: 103 - 106
SICI:
0334-018X(200101)14:1<103:DOTLAO>2.0.ZU;2-0
Fonte:
ISI
Lingua:
ENG
Keywords:
nonclassic congenital adrenal hyperplasia; 21-hydroxylase deficiency; Y chromosome; deletions; short stature; CGY; AZF; hypogonadism; central precocious puberty; cryptorchidism;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
6
Recensione:
Indirizzi per estratti:
Indirizzo: Botella-Carretero, JI Hosp Ramon y Cajal, Dept Endocrinol, Ctra Colmenar Km 9-1, E-28034 Madrid,Spain Hosp Ramon y Cajal Ctra Colmenar Km 9-1 MadridSpain E-28034
Citazione:
J.I. Botella-Carretero et al., "Deletion of the long arm of the Y chromosome in an adolescent with short stature and hypogonadism", J PED END M, 14(1), 2001, pp. 103-106

Abstract

We describe a patient with short stature more than that expected for non-treated congenital adrenal hyperplasia due to nonclassic 21-hydroxylase deficiency with deletions in the long arm of the Y chromosome including the CGYgene and the AZF subregions.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 09/07/20 alle ore 01:27:34