Literature DB >> 28211986

The p.R56* mutation in PTHLH causes variable brachydactyly type E.

Arrate Pereda1,2, Lucia Garzon-Lorenzo3, Intza Garin1, Jaime Cruz-Rojo3, Jaime Sanchez Del Pozo3, Guiomar Perez de Nanclares1.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2017        PMID： 28211986     DOI： 10.1002/ajmg.a.38067

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


× No keyword cloud information.
  7 in total

1.  A Heterozygous Splice-Site Mutation in PTHLH Causes Autosomal Dominant Shortening of Metacarpals and Metatarsals.

Authors:  Monica Reyes; Bert Bravenboer; Harald Jüppner
Journal:  J Bone Miner Res       Date:  2019-01-02       Impact factor: 6.741

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

Authors:  Monica Reyes; Caroline Silve; Harald Jüppner
Journal:  Exp Clin Endocrinol Diabetes       Date:  2019-12-11       Impact factor: 2.949

3.  What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.

Authors:  Arrate Pereda; Intza Garin; Guiomar Perez de Nanclares
Journal:  BMC Med Genet       Date:  2018-03-02       Impact factor: 2.103

4.  Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism.

Authors:  Jihong Bae; Hong Seok Choi; So Young Park; Do Eun Lee; Sihoon Lee
Journal:  Endocrinol Metab (Seoul)       Date:  2018-06

5.  A 3.06-Mb interstitial deletion on 12p11.22-12.1 caused brachydactyly type E combined with pectus carinatum.

Authors:  Jia Huang; Hong-Yan Liu; Rong-Rong Wang; Hai Xiao; Dong Wu; Tao Li; Ying-Hai Jiang; Xue Zhang
Journal:  Chin Med J (Engl)       Date:  2019-07-20       Impact factor: 2.628

6.  Brachydactyly Type A3 Is More Commonly Seen in Children With Short Stature But Does Not Affect Their Height Improvement by Growth Hormone Therapy.

Authors:  Huahong Wu; Yang Li; Hui Li
Journal:  Front Endocrinol (Lausanne)       Date:  2022-02-03       Impact factor: 5.555

7.  Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly.

Authors:  Francesca Marta Elli; Deborah Mattinzoli; Camilla Lucca; Matteo Piu; Maria A Maffini; Jole Costanza; Laura Fontana; Carlo Santaniello; Concetta Forino; Donatella Milani; Maria Teresa Bonati; Andrea Secco; Roberto Gastaldi; Carlo Alfieri; Piergiorgio Messa; Monica Miozzo; Maura Arosio; Giovanna Mantovani
Journal:  J Bone Miner Res       Date:  2022-01-17       Impact factor: 6.390
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.