mental retardation autosomal dominant type, 12

A condition (OMIM:614562) characterised by severe mental and psychomotor retardation, muscle hypotonia and poor expressive speech. Other common findings include short stature; abnormal head shape and low-set, abnormally shaped ears; downslanting palpebral fissures; a bulbous nasal tip; a thin upper lip; dental defects; and brachydactyly or single palmar creases.
Molecular pathology
Defects in ARID1B, which encodes a protein belonging to the neural progenitors-specific chromatin remodelling (npBAF) and the neuron-specific chromatin remodelling (nBAF) complexes, cause mental retardation autosomal dominant type 12.

单词	mental retardation autosomal dominant type, 12
释义	mental retardation autosomal dominant type, 12 mental retardation autosomal dominant type, 12 A condition (OMIM:614562) characterised by severe mental and psychomotor retardation, muscle hypotonia and poor expressive speech. Other common findings include short stature; abnormal head shape and low-set, abnormally shaped ears; downslanting palpebral fissures; a bulbous nasal tip; a thin upper lip; dental defects; and brachydactyly or single palmar creases. Molecular pathology Defects in ARID1B, which encodes a protein belonging to the neural progenitors-specific chromatin remodelling (npBAF) and the neuron-specific chromatin remodelling (nBAF) complexes, cause mental retardation autosomal dominant type 12.
随便看	wilson, sir william j.e. wilson, sir william je wilson social sciences abstracts wilson's petrel wilson's phalarope wilson's snipe wilson's storm-petrel wilson state park wilson's theorem wilsons theorem wilson's thrush wilson's warbler wilson syndrome wilson tariff act wilson (taxonomy) wilson teachers college wilson, teddy wilson theorem wilson, (thomas) woodrow wilson, thomas woodrow wilson three-mirror fundus lens wilson-turner syndrome wilson-turner x-linked mental retardation syndrome wilson-tuscarora state park wilsonville high school