Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly-Reference-Cited by-同舟云学术

Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly

Published:2008-11 Issue:6 Volume:51 Page:658-665
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Ginocchio Virginia M.,De Brasi Daniele,Genesio Rita,Ciccone Roberto,Gimelli Stefania,Fimiani Francesco,de Berardinis Teresa,Nitsch Lucio,Banfi Sandro,Magli Adriano,Della Casa Roberto

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference14 articles.

1. MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly;Bendavid;Hum. Mutat.,2007

2. Prenatal diagnosis of partial trisomy 3p(3p23→pter) and monosomy 7q(7q36→qter) in a fetus with microcephaly, alobar holoprosencephaly and cyclopia;Chen;Prenat. Diagn.,1999

3. Holoprosencephaly: clinical, anatomic, and molecular dimensions;Cohen;Birth Defects Res.,2006

4. Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients;De Gregori;J. Med. Genet.,2007

5. Ensembl Genome Browser. Available at: http://www.ensembl.org.

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