X-linked Inheritance of Tooth Size.
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 کاملClinical and molecular studies in a family with probable X-linked dominant Charcot-Marie-Tooth disease involving the central nervous system.
OBJECTIVE To investigate the clinical and molecular characteristics of an apparently X-linked dominant form of Charcot-Marie-Tooth (CMT) disease in a family with central nervous system involvement and additional features. BACKGROUND Charcot-Marie-Tooth disease may be inherited as an autosomal dominant, autosomal recessive, or X-linked trait. In the X-linked dominant form of CMT, females demon...
متن کاملClinical and electrophysiological studies of a family with probable X-linked dominant Charcot-Marie-Tooth neuropathy and ptosis.
BACKGROUND The X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX) is a hereditary motor and sensory neuropathy linked to a variety of mutations in the connexin32 (Cx32) gene. Clinical and genetic features of CMTX have not previously been reported in Taiwanese. METHODS Clinical evaluations and electrophysiological studies were carried out on 25 family members of a Taiwanese family group. ...
متن کاملChanges in Permeability Caused by Connexin 32 Mutations Underlie X-Linked Charcot-Marie-Tooth Disease
The relationship between the loss of connexin 32 function and clinical manifestations of X-linked Charcot-Marie-Tooth (CMTX) disease is unknown. Here, we report that eight of nine CMTX mutations investigated form channels with measurable electrical conductance. Single-channel studies of two mutations demonstrate reduced junctional permeability caused by a decrease in either pore size (S26L) or ...
متن کاملCongenital Ectodermal Dysplasia
Two cases of phenotypically similar ectodermal dysplasia characterised by reduction of hair, diminished sweat pores, missing teeth and somewhat cracked and abnormal skin were studied to understand the genetic basis of this disorder with the help of pedigrees. The mode of inheritance in one case was suggested to be x-linked where as in the other case it was autosomal recessive. (JPMA 35 225, 1985).
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عنوان ژورنال:
- Journal of dental research
دوره 44 شماره
صفحات -
تاریخ انتشار 1965