Subphenotype
Mostrando 1-2 de 2 artigos, teses e dissertações.
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1. Dental anomalies as phenotypic extension of oral clefts: molecular studies of candidate genes and chromosomal regions / Anomalias dentárias como extensão fenotípica das fissuras orais: estudos moleculares de genes e regiões candidatas
Cleft lip with or without cleft palate (CL/P) is a common craniofacial anomaly in humans, and may occur as part of a syndrome or isolated, when the affected individuals do not present any associated structural anomalies. The etiology of CL/P is complex, with both genetic and environmental factors involved. Several genes/loci have been suggested in the past y
Publicado em: 2007
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2. Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype.
A special subphenotype of the fragile X syndrome is reported which is characterised by extreme obesity with a full, round face, small, broad hands/feet, and regional skin hyperpigmentation. It resembles the Prader-Willi syndrome (PWS) and might therefore be named 'Prader-Willi-like'. Unlike the PWS, these PW-like fragile X patients lack the neonatal hypotoni