Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants-Reference-Cited by-同舟云学术

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Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants

Published:2024-06 Issue: Volume:69 Page:104937
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Herlin Laura Krogh^ORCID,Herlin Morten Krogh,Blechingberg Jenny,Rønholt Kirsten,Graversen Lise,Schmidt Sigrun A.J.,Jørgensen Mette Warming,Hellfritzsch Michel Bach,Hald Jannie Dahl,Beck-Nielsen Signe Sparre,Gjørup Hans,Andersen Brian Nauheimer,Gregersen Pernille Axél,Sommerlund Mette

Publisher

Elsevier BV

Reference20 articles.

1. A de nevo complex t(7;13;8) translocation with a deletion in the TRPS gene region;Brandt;Hum. Genet.,1997

2. Mullerian duct anomalies diagnosed by saline contrast sonohysterography: prevalence in a general population;Dreisler;Fertil. Steril.,2014

3. [Tricho-rhino-phalangeal syndrome];Giedion;Helv. Paediatr. Acta,1966

4. Tricho-rhino-phalangeal syndrome;Gorlin;Am. J. Dis. Child.,1969

5. Langer-giedion syndrome. Birth defects orig;Hall;Artic. Ser.,1974

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Phenotypes, Genetics, and Estimated Prevalence of Focal Dermal Hypoplasia (Goltz Syndrome): A Single‐Center Report;Pediatric Dermatology;2024-09-10

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