title: Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit.
authors: F
authors: F
authors: Ariani
authors: F
authors: F
authors: Mari
authors: S
authors: S
authors: Amitrano
authors: C
authors: C
authors: Di Marco
authors: R
authors: R
authors: Artuso
authors: E
authors: E
authors: Scala
authors: I
authors: I
authors: Meloni
authors: R
authors: R
authors: Della Volpe
authors: A
authors: A
authors: Rossi
authors: H
authors: H
authors: van Bokhoven
authors: A
authors: A
authors: Renieri
mesh_terms: D000328:Adult; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D059472:Exome / Q000235:genetics*; D005192:Family Health; D005260:Female; D050172:Genes, X-Linked / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D015203:Reproducibility of Results; D017422:Sequence Analysis, DNA / Q000379:methods*
chemical_list: C467202:ASPM protein, human; D009419:Nerve Tissue Proteins