Hirst, J.

family mutation protein individual subunit patient retardation variant american journal analysis genet disability families mr 061 genetic adaptor identi cause figure linkage identi fied muscle mass autosomal-recessive ap 4e table growth retardation brain family mr 061 mapping family id 01 syndrome chromosome american microcephaly stereotypic laughter ap 4s bulbous nose encoding journal impairment genome speech complex syrian control laughter sequencing slc 22a disease deletion fication feature family mr 071 autozygosity mapping ap 4 subunits ap 4m hypotonia expression linkage analyses analyses parent ap 4-de syndrome m 4 subunit santa clara ap 4s mutation frameshift mutation exon 5 foot deformity splice-donor site mutation muscle stereotypic affymetrix center germany sibling stature growth hypertonia novel vesicle receptor