Phenotypic Spectrum of Simpson-Golabi-Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC 3 and Review of the Literature-Reference-Cited by-同舟云学术

Phenotypic Spectrum of Simpson-Golabi-Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC 3 and Review of the Literature

Published:2013-04-18 Issue:2 Volume:163 Page:92-105
ISSN:1552-4868
Container-title:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

COTTEREAU EDOUARD,MORTEMOUSQUE ISABELLE,MOIZARD MARIE-PIERRE,BÜRGLEN LYDIE,LACOMBE DIDIER,GILBERT-DUSSARDIER BRIGITTE,SIGAUDY SABINE,BOUTE ODILE,DAVID ALBERT,FAIVRE LAURENCE,AMIEL JEANNE,ROBERTSON ROBERT,VIANA RAMOS FABIANA,BIETH ERIC,ODENT SYLVIE,DEMEER BÉNÉDICTE,MATHIEU MICHÉLE,GAILLARD DOMINIQUE,VAN MALDERGEM LIONEL,BAUJAT GENEVIÉVE,MAYSTADT ISABELLE,HÉRON DELPHINE,VERLOES ALAIN,PHILIP NICOLE,CORMIER-DAIRE VALÉRIE,FROUTÉ MARIE-FRANÇOISE,PINSON LUCILE,BLANCHET PATRICIA,SARDA PIERRE,WILLEMS MARJOLAINE,JACQUINET ADELINE,RATBI ILHAM,VAN DEN ENDE JENNEKE,LACKMY-PORT LIS MARYLIN,GOLDENBERG ALICE,BONNEAU DOMINIQUE,ROSSIGNOL SYLVIE,TOUTAIN ANNICK

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference45 articles.

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3. Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome;Brzustowicz;Am J Hum Genet,1999

4. Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome;Chen;Taiwan J Obstet Gynecol,2012

5. Simpson-Golabi-Behmel syndrome: Congenital diaphragmatic hernia and radiologic findings in two patients and follow-up of a previously reported case;Chen;Am J Med Genet,1993

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