A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism
نویسندگان
چکیده
منابع مشابه
Study on KAL1 Gene Mutations in Idiopathic Hypogonadotropic Hypogonadism Patients with X-Linked Recessive Inheritance
Idiopathic hypogonadotropic hypogonadism (IHH) is a condition caused by low doses of hypothalamic gonadotropin-releasing hormone (GnRH) leading to absence or incomplete sexual maturation. One of the disorders leading to IHH is Kallmann syndrome which is characterized by GnRH deficiency with anosmia or hyposmia. This disorder generally occurs as a hereditary syndrome with X-linked recessive inhe...
متن کاملPrenatal sex determination in suspicious cases of X-linked recessive diseases by the amelogenin gene
Objective(s):To determine the fetal discernment in suspected cases of sex linked recessive disease in the first trimester of pregnancy. Materials and Methods: After collection of 100 Chorionic Villi samples, the DNAs were extracted and baby gender was determined. Meanwhile, after increasing the sensitivity, the system was able to detect the sex of each cell which was obtained by biopsy. Resul...
متن کاملstudy on kal1 gene mutations in idiopathic hypogonadotropic hypogonadism patients with x-linked recessive inheritance
idiopathic hypogonadotropic hypogonadism (ihh) is a condition caused by low doses of hypothalamic gonadotropin-releasing hormone (gnrh) leading to absence or incomplete sexual maturation. one of the disorders leading to ihh is kallmann syndrome which is characterized by gnrh deficiency with anosmia or hyposmia. this disorder generally occurs as a hereditary syndrome with x-linked recessive inhe...
متن کاملLocalisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27.
X linked recessive idiopathic hypoparathyroidism (HPT) has been observed in two kindreds from Missouri, USA. Affected subjects, who are males, suffer from infantile onset of epilepsy and hypocalcaemia, which appears to be the result of an isolated congenital defect of parathyroid gland development; females are not affected and are normocalcaemic. The gene causing HPT has been previously mapped ...
متن کاملprenatal sex determination in suspicious cases of x-linked recessive diseases by the amelogenin gene
objective(s):to determine the fetal discernment in suspected cases of sex linked recessive disease in the first trimester of pregnancy. materials and methods: after collection of 100 chorionic villi samples, the dnas were extracted and baby gender was determined. meanwhile, after increasing the sensitivity, the system was able to detect the sex of each cell which was obtained by biopsy. results...
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ژورنال
عنوان ژورنال: Human Genetics
سال: 2017
ISSN: 0340-6717,1432-1203
DOI: 10.1007/s00439-017-1804-9