منابع مشابه
Sex linked valvular dysplasia.
A family is described in which three males have been affected by congenital valvular dysplasia of one or more heart valves, in one case leading to neonatal death. The pedigree is consistent with sex linked inheritance.
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The management of retinoschisis still presents a complex clinical problem, and a survey of the current literature suggests that opinion remains divided regarding the most suitable form of treatment. It has been suggested that the results of surgery are poor and that operative treatment should be undertaken only with reluctance (Balian and Falls, I960; Shea, Schepens, and von Pirquet, I960; Duke...
متن کاملBGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.
Spondyloepimetaphyseal dysplasias (SEMDs) comprise a heterogeneous group of autosomal-dominant and autosomal-recessive disorders. An apparent X-linked recessive (XLR) form of SEMD in a single Italian family was previously reported. We have been able to restudy this family together with a second family from Korea by segregating a severe SEMD in an X-linked pattern. Exome sequencing showed missen...
متن کاملFrontometaphyseal dysplasia: autosomal dominant or X-linked?
The clinical and radiographic manifestations in a 45-year-old male with frontometaphyseal dysplasia (FMD) are documented and depicted. Deafness and degenerative osteoarthropathy in weight-bearing joints were the main clinical problems. Widespread patchy cranial sclerosis was reminiscent of Paget's disease, while digital deformity resembled rheumatoid arthritis. On the basis of a review and tabu...
متن کاملSex chromosomes, sex determination, and sex-linked sequences in Microtidae.
The Arvicolidae is a widely distributed rodent group with several interesting characteristics in their sex chromosomes. Here, we summarize the actual knowledge of some of these characteristics. This mammalian group has species with abnormal sex determination systems. In fact, some species present the same karyotype in both males and females, with total absence of a Y chromosome, and hence of SR...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1993
ISSN: 1468-6244
DOI: 10.1136/jmg.30.10.873