X-linked recessive inheritance of radial ray deficiencies in a family with four affected males
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 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 کاملClinical features of affected males with X linked ocular albinism.
Seventy four males affected by X linked ocular albinism (XLOA) from 19 pedigrees were examined to assess phenotypic variation and visual prognosis. Nystagmus was present in all cases except one. Best visual acuity ranged from 6/9 to 6/60; 79.7% could see 6/36 or better; most could read N5. Marked iris translucency and foveal hypoplasia were present in all cases. Posterior embryotoxon was presen...
متن کاملX-linked recessive inheritance in the Ehlers-Danlos syndrome.
Two families are described in which the Ehlers-Danlos syndrome is apparently transmitted as an X-linked recessive character. The results of tests for the Xg blood groups and for colour vision show that the locus for the Ehlers-Danlos syndrome is not close to that for the Xg groups nor very close to the locus for deutan colour-blindness.The clinical features of this variety of the Ehlers-Danlos ...
متن کاملX linked recessive inheritance of agenesis of the corpus callosum.
A 2-year-old boy with psychomotor retardation, congenital unilateral ptosis, bilateral adducted thumbs, weakness of upper limbs, and Hirschsprung's disease (aganglionosis), with complete agenesis of the corpus callosum and hypoplasia of the inferior vermis and cerebellum is reported. His 24-year-old maternal uncle, with severe psychomotor retardation but none of the other physical problems, als...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2001
ISSN: 1018-4813,1476-5438
DOI: 10.1038/sj.ejhg.5200692