Heterozygous kinase domain mutations or homozygous extracellular domain mutations in have been reported to cause Hartsfield syndrome (HS), which is characterized by the triad of holoprosencephaly, ectrodactyly and cleft lip/palate. To date, more than 200 mutations in have been described; however, only 10 HS-associated mutations have been reported thus far. We describe a case of typical HS with hypogonadotropic hypogonadism (HH) harboring a novel heterozygous mutation, p.His253Pro, in the extracellular domain of . This is the first report of an HS-associated heterozygous mutation located in the extracellular domain of , thus expanding our understanding of the phenotypic features and further developmental course associated with mutations.
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| http://dx.doi.org/10.1038/hgv.2016.34 | DOI Listing |
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