Clinical consequences in truncating mutations in exon 34 ofNOTCH2: Report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome-Reference-Cited by-同舟云学术

Clinical consequences in truncating mutations in exon 34 ofNOTCH2: Report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome

Published:2013-02-07 Issue:3 Volume:161 Page:518-526
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Narumi Yoko,Min Byung-Joo,Shimizu Kenji,Kazukawa Itsuro,Sameshima Kiyoko,Nakamura Koichi,Kosho Tomoki,Rhee Yumie,Chung Yoon-Sok,Kim Ok-Hwa,Fukushima Yoshimitsu,Park Woong-Yang,Nishimura Gen

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference19 articles.

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2. Hajdu-Cheney syndrome: Evolution of phenotype and clinical problems;Brennan;Am J Med Genet,2001

3. Hajdu-Cheney syndrome associated with serpentine fibulae and polycystic kidney disease;Currarino;Pediatr Radiol,2009

4. Serpentine fibula-polycystic kidney syndrome. A variant of the Melnick-Needles syndrome or a distinct entity?;Exner;Eur J Pediatr,1988

5. Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome;Gray;Eur J Hum Genet,2012

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