Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1
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IL-25 and IL-33 Serum Levels are not Associated with the Type of Allergen Causing Allergic Rhinitis
Background: Fungal aeroallergens might sensitize the airway which in turn produces a specific cytokine profile. Objective: To evaluate the IL-25 and IL-33 profile in patients with fungal allergic rhinitis. Methods: The present study examined patients who were evaluated due to allergic rhinitis (AR) at Emam Reza Hospital of Shiraz, Iran. The all...
متن کاملA novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2.
The brachydactylies are a group of inherited disorders characterised by shortened or malformed digits that are thought to be the result of abnormal growth of the phalanges and/or metacarpals. First classified by Bell into types A, B, C, D, and E, they were reclassified by Temtamy and McKusick and Fitch. Brachydactyly type A1 (BDA1, MIM 112500) is characterised by shortened or absent middle phal...
متن کاملLETTERS TO JMG A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2
The brachydactylies are a group of inherited disorders characterised by shortened or malformed digits that are thought to be the result of abnormal growth of the phalanges and/or metacarpals. First classified by Bell into types A, B, C, D, and E, they were reclassified by Temtamy and McKusick and Fitch. Brachydactyly type A1 (BDA1, MIM 112500) is characterised by shortened or absent middle phal...
متن کاملIdentification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus.
Brachydactyly (BD) is a term used to describe inherited anomalies of the hands generally characterised by shortened phalanges or metacarpals. Initially, the brachydactylies were grouped into five different classes (A-E), with three subtypes of A. Later work revised and extended the classification of BD. 3 In type A, shortening is primarily confined to the middle phalanges. Subtype A1 (BDA1, OMI...
متن کاملBrachydactyly type A2 associated with a defect in proGDF5 processing.
We investigated a family with a brachydactyly type A2 and identified a heterozygous arginine to glutamine (R380Q) substitution in the growth/differentiation factor 5 (GDF5) in all affected individuals. The observed mutation is located at the processing site of the protein, at which the GDF5 precursor is thought to be cleaved releasing the mature molecule from the prodomain. In order to test the...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2015
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2015.38