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We report on a 17‐year‐old male with severe pre‐ and postnatal growth retardation, craniosynostosis, distinctive facial features, acanthosis nigricans, deafness, mental retardation and progressive multi‐organ involvement, particularly of the endocrine system, including hypothyroidism,...
Rothmund–Thomson syndrome (RTS) (OMIM 268400) is an autosomal recessive genodermatosis associated with genomic instability and increased risk of mesenchymal cancers. Mutations in the RECQL4 gene, encoding a protein of the family of Werner (WRN) and Bloom (BLM) helicases, have been identified in...
In 1983, Johnson et al. described 16 related individuals with alopecia, anosmia or hyposmia, conductive hearing loss, microtia and/or atresia of the external auditory canal, and hypogonadotrophic hypogonadism inherited in an autosomal dominant pattern. Other less constant manifestations included...
The number of prenatal genetic tests that are being offered to women is constantly increasing. However, there is little national data as to who is performing the tests and the reasons for doing or not doing so. This study evaluated the proportion of Jewish women in Israel who perform the various...
Heat shock protein 27 (HSP27) is one of a number of actin‐binding proteins that regulate actin polymerization. Three related HSP27 sequences had previously been mapped to chromosomes 3, 9, and X. We have used fluorescent in‐situ hybridization (FISH) to correct and refine the map position of...
Polymorphisms of maternal genes responsible for normal folate metabolism may be associated with an increased risk of fetal trisomy 21. By January 1998, most of Canada's flour was being fortified with folic acid. We investigated whether the prevalence of antenatally and postnatally detected...
We describe an 8.5‐year‐old boy with facial dysmorphism consisting of a round and flat face, telecanthus, periorbital fullness, short nose, downturned corners of the mouth, and micrognathia. In addition, profound mental retardation, tetralogy of Fallot, and renal dysplasia were present....
Lines of evidence have recently indicated a relationship between mutations in the P63 gene and ectrodactyly‐ectodermal dysplasia‐clefting (EEC) syndrome type 3 (EEC3). The p63 gene (P63) has homology to P53 known as a tumor‐suppressor gene, but biological function of its protein has not yet...
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