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p.E95K mutation in Indian hedgehog causing brachydactyly type A1 impairs IHH/Gli1 downstream transcriptional regulation.
Shen L, Ma G, Shi Y, Ruan Y, Yang X, Wu X, Xiong Y, Wan C, Yang C, Cai L, Xiong L, Gong X, He L, Qin S. Shen L, et al. BMC Genet. 2019 Jan 16;20(1):10. doi: 10.1186/s12863-018-0697-5. BMC Genet. 2019. PMID: 30651074 Free PMC article.
BACKGROUND: Brachydactyly type A1 (BDA1, OMIM 112500) is a rare inherited malformation characterized primarily by shortness or absence of middle bones of fingers and toes. ...
BACKGROUND: Brachydactyly type A1 (BDA1, OMIM 112500) is a rare inherited malformation characterized primarily by short …
Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.
Sentchordi-Montané L, Benito-Sanz S, Aza-Carmona M, Pereda A, Parrón-Pajares M, de la Torre C, Vasques GA, Funari MFA, Travessa AM, Dias P, Suarez-Ortega L, González-Buitrago J, Portillo-Najera NE, Llano-Rivas I, Martín-Frías M, Ramírez-Fernández J, Sánchez Del Pozo J, Garzón-Lorenzo L, Martos-Moreno GA, Alfaro-Iznaola C, Mulero-Collantes I, Ruiz-Ocaña P, Casano-Sancho P, Portela A, Ruiz-Pérez L, Del Pozo A, Vallespín E, Solís M, Lerario AM, González-Casado I, Ros-Pérez P, Pérez de Nanclares G, Jorge AAL, Heath KE. Sentchordi-Montané L, et al. J Clin Endocrinol Metab. 2020 Aug 1;105(8):dgaa218. doi: 10.1210/clinem/dgaa218. J Clin Endocrinol Metab. 2020. PMID: 32311039
CONTEXT: Heterozygous variants in the Indian hedgehog gene (IHH) have been reported to cause brachydactyly type A1 and mild hand and feet skeletal anomalies with short stature. ...RESULTS: Fifteen different heterozygous IHH variants were detected, one of whic …
CONTEXT: Heterozygous variants in the Indian hedgehog gene (IHH) have been reported to cause brachydactyly type A1 and …
IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.
Vasques GA, Funari MFA, Ferreira FM, Aza-Carmona M, Sentchordi-Montané L, Barraza-García J, Lerario AM, Yamamoto GL, Naslavsky MS, Duarte YAO, Bertola DR, Heath KE, Jorge AAL. Vasques GA, et al. J Clin Endocrinol Metab. 2018 Feb 1;103(2):604-614. doi: 10.1210/jc.2017-02026. J Clin Endocrinol Metab. 2018. PMID: 29155992
Affected individuals typically manifest mild disproportional short stature with a frequent finding of shortening of the middle phalanx of the fifth finger. None of them have classic features of brachydactyly type A1, which was previously associated with IHH m …
Affected individuals typically manifest mild disproportional short stature with a frequent finding of shortening of the middle phalanx of th …