Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference30 articles.
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2. A novel locus for brachydactyly type A1 on chromosome 5p13.3–p13.2;Armour;J. Med. Genet.,2002
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4. On Brachydactyly and Symphalangism;Bell,1951
5. Brachymesophalangy and loose bodies in the metacarpophalangeal joints;Boe;Acta Orthop. Scand.,1979
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1. Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects;European Journal of Endocrinology;2024-06-25
2. Acrocapitofemoral dysplasia: Novel mutation in IHH in two adult patients from the third family in the literature and progression of the disease;European Journal of Medical Genetics;2021-11
3. Deletion of 2 amino acids in IHH in a Japanese family with brachydactyly type A1;BMC Medical Genomics;2021-07-27
4. Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants;The Journal of Clinical Endocrinology & Metabolism;2020-04-20
5. Roles of glycosaminoglycans as regulators of ligand/receptor complexes;Open Biology;2018-10
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