A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus

Giovanni Neri; Marcella Zollino; Daniela Orteschi; Giuseppe Marangi; V. De Crescenzo; V. Pecile; A. Riccio

A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus

Giovanni Neri, Marcella Zollino, Daniela Orteschi, Giuseppe Marangi, V. De Crescenzo, V. Pecile, A. Riccio

Risultato della ricerca: Contributo in rivista › Articolo

Lingua originale	Inglese
pagine (da-a)	429-432
Numero di pagine	4
Rivista	Journal of Medical Genetics
Stato di pubblicazione	Pubblicato - 2010

Keywords

BECKWITH_WIEDEMANN
BWS locus
cryptic 11p15

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title = "A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus",

keywords = "BECKWITH\_WIEDEMANN, BWS locus, cryptic 11p15, BECKWITH\_WIEDEMANN, BWS locus, cryptic 11p15",

author = "Giovanni Neri and Marcella Zollino and Daniela Orteschi and Giuseppe Marangi and \{De Crescenzo\}, V. and V. Pecile and A. Riccio",

year = "2010",

language = "English",

pages = "429--432",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

publisher = "BMJ / British Medical Journal Publishing Group:PO Box 299, London WC1H 9TD United Kingdom:011 44 20 73836270, EMAIL: [email protected], INTERNET: http://www.bmjpg.com/bmj, Fax: 011 44 20 73836402",

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TY - JOUR

T1 - A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus

AU - Neri, Giovanni

AU - Zollino, Marcella

AU - Orteschi, Daniela

AU - Marangi, Giuseppe

AU - De Crescenzo, V.

AU - Pecile, V.

AU - Riccio, A.

PY - 2010

Y1 - 2010

KW - BECKWITH_WIEDEMANN

KW - BWS locus

KW - cryptic 11p15

KW - BECKWITH_WIEDEMANN

KW - BWS locus

KW - cryptic 11p15

UR - http://hdl.handle.net/10807/10673

M3 - Article

SN - 0022-2593

SP - 429

EP - 432

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

ER -