De novo 17q paracentric inversion mosaicism in a patient with Beemer-Langer type short rib-polydactyly syndrome with special consideration to the classification of short rib polydactyly syndromes-Reference-Cited by-同舟云学术

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De novo 17q paracentric inversion mosaicism in a patient with Beemer-Langer type short rib-polydactyly syndrome with special consideration to the classification of short rib polydactyly syndromes

Published:1994-11-01 Issue:2 Volume:53 Page:165-171
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Chen Harold,Mirkin David,Yang Samuel

Publisher

Wiley

Subject

Genetics(clinical)

Reference28 articles.

1. Familial short rib syndrome, type Beemer, with pyloric stenosis and short intestine, one case diagnosed prenatally

2. A new short rib syndrome: Report of two cases

3. Short-rib syndrome classification

4. International classification of osteochondrodysplasias

5. Short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases.

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1. Short-Rib Polydactyly Syndromes;Atlas of Genetic Diagnosis and Counseling;2017

2. Short-Rib Polydactyly Syndromes;Atlas of Genetic Diagnosis and Counseling;2016

3. Short Rib–Polydactyly Syndromes;Atlas of Genetic Diagnosis and Counseling;2012

4. S;Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias;2007

5. Short Rib Polydactyly Syndrome Type 3 with Absence of Fibulae (Verma-Naumoff Syndrome);Fetal Diagnosis and Therapy;2005

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