Arthrogryposis as a presenting feature of nail-patella syndrome: a lesser-known feature and the perils of negative whole-genome sequencing-Reference-Cited by-同舟云学术

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Arthrogryposis as a presenting feature of nail-patella syndrome: a lesser-known feature and the perils of negative whole-genome sequencing

Published:2020-07-06 Issue:4 Volume:29 Page:177-181
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Sabir Ataf H.,Dermanis Alexander A.,Irving Melita,Cheung Moira

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics(clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology, and Child Health

Reference7 articles.

1. Nail-patella syndrome. Overview on clinical and molecular findings.;Bongers;Pediatr Nephrol,2002

2. Nail patella syndrome.;Cifuentes;Nephrol Renal Dis,2017

3. Nail-patella syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity.;Ghoumid;Eur J Hum Genet,2016

4. Nail patella syndrome: a review of 44 orthopaedic patients.;Guidera;J Pediatr Orthop,1991

5. The distal arthrogryposes: delineation of new entities–review and nosologic discussion.;Hall;Am J Med Genet,1982

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