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Further delineation of Kabuki syndrome in 48 well-defined new individuals

✍ Scribed by Linlea Armstrong; Azza Abd El Moneim; Kirk Aleck; David J. Aughton; Clarisse Baumann; Stephen R. Braddock; Gabriele Gillessen-Kaesbach; John M. Graham Jr; Theresa A. Grebe; Karen W. Gripp; Bryan D. Hall; Raoul Hennekam; Alasdair Hunter; Kim Keppler-Noreuil; Didier Lacombe; Angela E. Lin; Jeffrey E. Ming; Nancy Mizue Kokitsu-Nakata; Sarah M. Nikkel; Nicole Philip; Annick Raas-Rothschild; Annemarie Sommer; Alain Verloes; Claudia Walter; Dagmar Wieczorek; Marc S. Williams; Elaine Zackai; Judith E. Allanson

Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 291 KB
Volume: 132A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.30340

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Prenatal growth retardation, microcephal

Prenatal growth retardation, microcephaly, and eye coloboma in infant with multiple congenital anomalies: Further delineation of presumed new dysmorphic syndrome

✍ Goran Cuturilo; Ida Jovanovic; Goran Vukomanovic; Milan Djukic; Igor Stefanovic; 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 249 KB

## Abstract ## BACKGROUND: Ten years ago an unusual association of prenatal growth retardation, microcephaly, coloboma of the iris/eye anomalies, congenital heart defects, and urogenital anomalies was reported for the first time in three siblings. Autosomal recessive inheritance was presumed. This