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Items: 11

Select item 79507201.

Shortened Fingers and Toes: GNAS Abnormalities are Not the Only Cause

Monica Reyes, Caroline Silve, Harald Jüppner

Exp Clin Endocrinol Diabetes. Author manuscript; available in PMC 2021 Mar 11.

Published in final edited form as: Exp Clin Endocrinol Diabetes. 2020 Oct; 128(10): 681–686. Published online 2019 Dec 11. doi: 10.1055/a-1047-0334

PMCID:: PMC7950720

Abstract Article PDF–471K

Select item 74502172.

An Activating Deletion Variant in the Submembrane Region of Natriuretic Peptide Receptor-B Causes Tall Stature

Peter Lauffer, Erick Miranda-Laferte, Hermine A van Duyvenvoorde, Arie van Haeringen, Franziska Werner, Eveline Boudin, Hannes Schmidt, Thomas D Mueller, Michaela Kuhn, Daniëlle C M van der Kaay

J Clin Endocrinol Metab. 2020 Jul; 105(7): 2354–2366. Published online 2020 Apr 16. doi: 10.1210/clinem/dgaa190

PMCID:: PMC7450217

Abstract Article

Select item 69131533.

An intragenic duplication of TRPS1 leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I

Cinthya J. Zepeda-Mendoza, Margot A. Cousin, Shubham Basu, Garrett Jenkinson, Gavin Oliver, Siobhan T. Pittock, Linda B. Baughn, Eric W. Klee, Dusica Babovic-Vuksanovic

Cold Spring Harb Mol Case Stud. 2019 Dec; 5(6): a004655. doi: 10.1101/mcs.a004655

PMCID:: PMC6913153

Abstract Article PDF–3.0M

Select item 62921304.

Non-ossifying fibroma with a pathologic fracture in a 12-year-old girl with tricho-rhino-phalangeal syndrome: a case report

Weijuan Su, Xiulin Shi, Mingzhu Lin, Caoxin Huang, Liying Wang, Haiqu Song, Yanzhen Zhuang, Haifang Zhang, Nanzhu Li, Xuejun Li

BMC Med Genet. 2018; 19: 211. Published online 2018 Dec 12. doi: 10.1186/s12881-018-0732-4

PMCID:: PMC6292130

Abstract Article PDF–4.7M

Select item 54158045.

A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report

W. Smaili, S. Chafai Elalaoui, S. Meier, M. Zerkaoui, A. Sefiani, K. Heinimann

BMC Med Genet. 2017; 18: 50. Published online 2017 May 3. doi: 10.1186/s12881-017-0413-8

PMCID:: PMC5415804

Abstract Article PDF–3.0M

Select item 46192136.

Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population

Eun Jin Woo, Won-Joon Lee, Kyung-Seok Hu, Jae Joon Hwang

PLoS One. 2015; 10(10): e0140901. Published online 2015 Oct 21. doi: 10.1371/journal.pone.0140901

PMCID:: PMC4619213

Abstract Article PDF–2.2M

Select item 38654007.

Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling

Carole Corsini, Martin Gencik, Marjolaine Willems, Eva Decker, Elodie Sanchez, Jacques Puechberty, Anouck Schneider, Manon Girard, Patrick Edery, Patricia Bretonnes, Jérôme Cottalorda, Geneviève Lefort, Claire Jeandel, Pierre Sarda, David Genevieve

Eur J Hum Genet. 2014 Jan; 22(1): 136–139. Published online 2013 Apr 10. doi: 10.1038/ejhg.2013.56