Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia-Reference-Cited by-同舟云学术

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Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia

Published:2016-01-06 Issue:8 Volume:24 Page:1132-1136
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Flöttmann Ricarda,Sowinska-Seidler Anna,Lavie Julie,Chateil Jean-François,Lacombe Didier,Mundlos Stefan,Horn Denise,Spielmann Malte

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2015266.pdf

Reference16 articles.

1. Klopocki E, Hennig BP, Dathe K et al: Deletion and point mutations of PTHLH cause brachydactyly type E. Am J Hum Genet 2010; 86: 434–439.

2. Mundlos S : The brachydactylies: a molecular disease family. Clin Genet 2009; 76: 123–136.

3. Duchatelet S, Ostergaard E, Cortes D, Lemainque A, Julier C : Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes. Hum Mol Genet 2005; 14: 1–5.

4. Schipani E, Kruse K, Juppner H : A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Science 1995; 268: 98–100.

5. Zhang P, Jobert AS, Couvineau A, Silve C : A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia. J Clin Endocrinol Metabol 1998; 83: 3365–3368.

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1. A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature;Molecular Genetics & Genomic Medicine;2024-02

2. Is an association of acro-osteolysis, bone fragility, and enchondromatosis a newfound disease caused by an amplification of PTHLH? A case report;Pediatric Rheumatology;2022-07-30

3. Structural pharmacology of PTH and PTHrP;Vitamins and Hormones;2022

4. Altered microRNAs in C3H10T1/2 cells induced by p.E95K mutant IHH signaling;Hereditas;2021-12

5. Chondrodysplasia, enchondromas and a chest deformity causing severe pulmonary morbidity in a boy with a PTHLH duplication: A case report;Bone Reports;2021-06

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