FGFR1 Analyses in Four Patients with Hypogonadotropic Hypogonadism with Split‐Hand/Foot Malformation: Implications for the Promoter Region
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DOI: 10.1002/humu.23178
Abstract: Heterozygous loss‐of‐function mutations of FGFR1 (fibroblast growth factor receptor 1) cause various disorders including hypogonadotropic hypogonadism with split‐hand/foot malformation (HH‐SHFM). We examined FGFR1 in four Japanese patients with HH‐SHFM (cases 1–4) and the mother of… read more here.
Keywords: foot malformation; split hand; fgfr1; hypogonadotropic hypogonadism ... See more keywords
Split hand/foot malformation associated with 20p12.1 deletion: A case report.
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DOI: 10.1016/j.ejmg.2019.103805
Abstract: Split hand/foot malformation (SHFM) or ectrodactyly is a rare congenital disorder affecting limb development characterized by clinical and genetic heterogeneity. SHFM is usually inherited as an autosomal dominant trait with incomplete penetrance. Isolated and syndromic… read more here.
Keywords: foot malformation; malformation; hand foot; split hand ... See more keywords
Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation
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DOI: 10.1590/1678-4685-gmb-2016-0162
Abstract: Abstract Split-hand/split-foot malformation (SHFM), also known as ectrodactyly is a rare genetic disorder. It is a clinically and genetically heterogeneous group of limb malformations characterized by absence/hypoplasia and/or median cleft of hands and/or feet. To… read more here.
Keywords: foot malformation; gene; wnt10b gene; split hand ... See more keywords
Split Hand Foot Malformation Syndrome: A Novel Heterozygous FGFR1 Mutation Detected by Next Generation Sequencing
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DOI: 10.2174/1389202920666190530092856
Abstract: Background: Split-hand/foot malformation syndrome is a rare, clinically and genetically het-erogeneous group of limb malformations characterized by absence/hypoplasia and/or median cleft of hands and/or feet. It may occur as an isolated abnormality or it may… read more here.
Keywords: foot malformation; hand; split hand; foot ... See more keywords
New pathogenic variant in DLX5: New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly
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DOI: 10.3389/fgene.2023.1165780
Abstract: Introduction: FATCO (Fibular Aplasia, Tibial Campomelia and Oligosyndactyly) is a very infrequent skeletal dysplasia classified within the limb hypoplasia-reduction defects group whose genetic cause has not yet been identified. The advent of next-generation sequencing is… read more here.
Keywords: tibial campomelia; aplasia; fibular aplasia; campomelia oligosyndactyly ... See more keywords
Dermolipoma in a case of split hand/foot malformation: A report of a novel ophthalmic presentation in a rare disease
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DOI: 10.4103/ijo.ijo_2816_21
Abstract: Received: 14‐Nov‐2021 Revision: 30‐Jan‐2022 Accepted: 14‐Mar‐2022 Published: 30‐Jun‐2022 Cite this article as: Khurana D, Balasubramaniyan MS, Hastak S, Chandrasekharan A. Dermolipoma in a case of split hand/foot malformation: A report of a novel ophthalmic presentation… read more here.
Keywords: malformation report; hand foot; split hand; dermolipoma case ... See more keywords