D. Tackels-Horne

A new X‐linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13

C. Schwartz, T. Cox, A. Lin, 2003, American journal of medical genetics. Part A.

X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28.

R. Stevenson, C. Schwartz, H. Lubs, 2002, American journal of human genetics.

Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21

Rebekah K. Stevenson, F. Gurrieri, R. Fischetto, 2001, Clinical genetics.

Stocco dos Santos X‐linked mental retardation syndrome: Clinical elucidation and localization to Xp11.3–Xq21.3

R. Stevenson, C. Schwartz, H. Lubs, 2003, American journal of medical genetics. Part A.