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Literature DB >> 23922166

Molecular basis of the clinical features of Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome (AARRS) and Fuhrmann syndrome.

Abstract

This paper reviews the molecular basis of the clinical features of Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia-aplasia) (AARRS) syndrome and Fuhrmann syndrome. Human WNT7A mutations are also reviewed. Based on this review, these mutations will be classified into two main groups of phenotypes: Fuhrmann and AARRS phenotypes in which there is partial and complete loss of WNT7A functions, respectively.

Entities: Disease Gene Species

Keywords: WNT7A; human; mutations

Mesh：

Substances：

Year: 2013 PMID： 23922166 DOI： 10.1002/ajmg.a.35437

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

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Cited

6 in total

1. Santos syndrome is caused by mutation in the WNT7A gene.

Authors: Leandro U Alves; Silvana Santos; Camila M Musso; Suzana Am Ezquina; John M Opitz; Fernando Kok; Paulo A Otto; Regina C Mingroni-Netto
Journal: J Hum Genet Date: 2017-08-31 Impact factor: 3.172

Review 2. How rare bone diseases have informed our knowledge of complex diseases.

Authors: Mark L Johnson
Journal: Bonekey Rep Date: 2016-09-21

3. Fibular Hypoplasia, Talar Aplasia, Absent Proximal Tibial Growth Plate and Oligosyndactyly (Variant of Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome) - Paucity of Case Reports with Evolving Definition.

Authors: Pankaj Kumar Mishra; Maneesh Verma
Journal: J Orthop Case Rep Date: 2021-08

Molecular basis of the clinical features of Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome (AARRS) and Fuhrmann syndrome.

1. Santos syndrome is caused by mutation in the WNT7A gene.

Review 2. How rare bone diseases have informed our knowledge of complex diseases.

3. Fibular Hypoplasia, Talar Aplasia, Absent Proximal Tibial Growth Plate and Oligosyndactyly (Variant of Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome) - Paucity of Case Reports with Evolving Definition.

Review 4. Primary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular Insight.

Review 5. Wnt Pathway Extracellular Components and Their Essential Roles in Bone Homeostasis.

Review 6. Studying Müllerian duct anomalies - from cataloguing phenotypes to discovering causation.