Absent tibiae, triphalangeal thumbs and polydactyly: description of a family and prenatal diagnosis-Reference-Cited by-同舟云学术

Absent tibiae, triphalangeal thumbs and polydactyly: description of a family and prenatal diagnosis

Published:2008-04-23 Issue:2 Volume:25 Page:182-186
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Canún S.,Lomelí R. M.,Martínez R.,Carnevale A.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1984.tb00482.x/fullpdf

Reference5 articles.

1. A seemingly unique polydactyly syndactyly syndrome in four persons in three generations. Limb Malformations;Eaton;Birth Defects Original Article Series,1969

2. Prenatal Diagnosis of thrombocitouenia with absent radii;Luthy;Clin. Genet.,1979

3. Prospect for radiographic intrauterine diagnosis the syndrome of throm-bocitopenia with absent radii;Omenn;N. Engl. J. Med.,1973

4. Bilateral aplasia of the tibiae, polydactyly and absent thumb in father and daughter;Pashayan;J. Bone Joint. Surg.,1971

5. Un syndrome osseux peu common associant une heptadactylie et une aplasie des tibiae;Reber;J. Génét. Hum.,19678

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1. Werner mesomelic dysplasia;Pediatric Traumatology, Orthopaedics and Reconstructive Surgery;2018-12-28

2. Tibial hemimelia with separate soft-tissue cover of the tibia and fibula;The Journal of Bone and Joint Surgery. British volume;2011-07

3. Genomewide Linkage Scan for Split–Hand/Foot Malformation with Long-Bone Deficiency in a Large Arab Family Identifies Two Novel Susceptibility Loci on Chromosomes 1q42.2-q43 and 6q14.1;The American Journal of Human Genetics;2007-01

4. REFERENCES (GAMUTS);Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias;2007

5. Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: Clinical and genetic analysis;American Journal of Medical Genetics Part A;2006