Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly-Reference-Cited by-同舟云学术

Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly

Published:2022-01-17 Issue: Volume: Page:
ISSN:0884-0431
Container-title:Journal of Bone and Mineral Research
language:en
Short-container-title:J of Bone & Mineral Res

Author:

Elli Francesca Marta¹^ORCID,Mattinzoli Deborah²,Lucca Camilla¹,Piu Matteo¹,Maffini Maria A.³,Costanza Jole⁴,Fontana Laura⁴,Santaniello Carlo⁴,Forino Concetta⁵,Milani Donatella⁶,Bonati Maria Teresa⁷,Secco Andrea⁸,Gastaldi Roberto⁹,Alfieri Carlo³¹⁰,Messa Piergiorgio³¹⁰,Miozzo Monica⁴,Arosio Maura¹³,Mantovani Giovanna¹³

Affiliation:

1. Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy

2. Renal Research Laboratory, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy

3. Department of Clinical Sciences and Community Health University of Milan Milan Italy

4. Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, UOS Coordinamento Laboratori di Ricerca, Direzione Scientifica Milan Italy

5. UO Pediatria, Fondazione Poliambulanza Brescia Italy

6. Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Unità di Pediatria Alta Intensità di Cura Milan Italy

7. Clinic of Medical Genetics, IRCCS Istituto Auxologico Italiano Milan Italy

8. SC Pediatria e DEA Pediatrico, Azienda Ospedaliera SS. Antonio e Biagio e Cesare Arrigo Alessandria Italy

9. Clinica Pediatrica IRCCS Giannina Gaslini Genova Italy

10. Dialysis and Renal Transplant Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jbmr.4490

Reference35 articles.

1. The genetic basis for skeletal diseases

2. International nosology and classification of constitutional disorders of bone (2001)

3. The brachydactylies: a molecular disease family

4. Brachydactyly E: isolated or as a feature of a syndrome

5. Pseudohypoparathyroidism and Gsα–cAMP-linked disorders: current view and open issues

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