1 февр. 2018 г. · Our study demonstrated the association of pathogenic variants in IHH with short stature with nonspecific skeletal abnormalities and established a frequent ...

15 нояб. 2017 г. · Heterozygous IHH mutations cause growth impairment with mild skeletal abnormalities in children initially classified as having idiopathic ... Abstract · Patients and Methods · Results · Discussion

16 июл. 2001 г. · Here we show that mutations in IHH, which encodes Indian hedgehog, cause BDA-1. We have identified three heterozygous missense mutations in the ...

"A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved". Hum. Genet. 111 (4–5): 368–75. doi:10.1007/s00439-002-0815 ...

IHH mutations can lead to familial short stature combined with non-classical BDA1; continuous use of growth hormone therapy may provide long-term benefits and ...

1 авг. 2006 г. · A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family · Introduction.

IHH gene mutations causing short stature with non-specific skeletal abnormalities and response to growth hormone therapy J Clin Endocrinol Metab. 2018 Feb 1;103 ...

The hedgehog genes, including IHH, encode signaling molecules that play a role in regulating embryonic morphogenesis (Marigo et al., 1995).

Homozygous Mutations in IHH Cause Acrocapitofemoral Dysplasia, an Autosomal Recessive Disorder with Cone-Shaped Epiphyses in Hands and Hips - ScienceDirect.