Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): Report of a new patient and review of the literature

Author:

Mégarbané André,Maroteaux Pierre,Caillaud Catherine,Le Merrer Martine

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference6 articles.

1. L'osteochondrodysplasie spondylo-epiphyso-metaphysaire type Irapa. Nouveau nanisme avec rachis et metatarsiens courts;Arias;Nouv Presse Med,1976

2. Spondyloepiphyseal dysplasia of Maroteaux;Doman;J Bone Joint Surg A,1984

3. Brachyolmia: An autosomal dominant form;Gardner;Am J Med Genet,1994

4. Beitrag zur Chondodystrophie und Chondromatose;Kochs;Arch Orthop Unfall,1932

5. An unknown spondyloepimetaphyseal dysplasia with a positive sweat chloride test, sparse hair and mild facial dysmorphism;Leonard;Clin Dysmorphol,1994

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1. Spondyloepimetaphyseal dysplasia-Maroteaux type due to dominant TRPV4 mutation: expanding the phenotype with a case report;Skeletal Radiology;2022-07-01

2. Diagnosing mucopolysaccharidosis IVA;Journal of Inherited Metabolic Disease;2013-02-01

3. TRPV4-associated skeletal dysplasias;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2012-07-12

4. Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations;American Journal of Medical Genetics Part A;2010

5. Ritardo di crescita staturo-ponderale: diagnosi e presa in carico;EMC - AKOS - Trattato di Medicina;2007-01

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