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- noun Plural form of
Sorry, no etymologies found.
The Marshall Smith Syndrome (MSS) is a rare congenital disorder, displaying a constellation of unique symptoms, including orofacial dysmorphisms, accelerated osseous maturation and dysplasias, mental retardation, and respiratory maladies.
The presence of severe mental retardation associated with anomalous breathing pattern suggest the Joubert and Rett syndrome, excluded on the basis of clinical and genetic examination; the Angelmann syndrome, suspected for facial dysmorphisms and absent language, is excluded by the presence of a normal pattern of methylation at SNRPN locus (region 15q11-q12).
GTF2IRD1 and GTF2I genes might be involved in the facial dysmorphisms and in the specific motor and cognitive deficits observed in WBS patients.
(paroxisms of hyperpnea-apnea) and facial dysmorphisms, whose causative gene