Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: A family report

The ?Cat Eye syndrome?: Dicentric small marker chromosome probably derived from a No. 22 (Tetrasomy 22pter?q11) associated with a characteristic phenotype

Albert Schinzel, Werner Schmid, M. Fraccaro et al. · Human Genetics · 1981 · 206 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Phenotypic variability of the cat eye syndrome. Case report and review of the literature.

P R Rosias, J M Sijstermans, P.M.V.M. Theunissen et al. · PubMed · 2001 · 105 citations

Life Sciences, Genetics, Molecular Genetics +17

Phenotypic variability of Cat-Eye syndrome.

M J Berends, Gita Tan-Sindhunata, Beike Leegte et al. · PubMed · 2001 · 103 citations

Life Sciences, Genetics, Molecular Genetics +13

Molecular characterization of the marker chromosome associated with cat eye syndrome.

Alan J. Mears, Alessandra M.V. Duncan, Marcia L. Budarf et al. · PubMed · 1994 · 94 citations

Life Sciences, Genetics, Molecular Genetics +16

A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family

Jeroen Knijnenburg, Yolande van Bever, Lorette O. M. Hulsman et al. · European Journal of Human Genetics · 2012 · 63 citations · Full text

Medicine, Nephrology, Ocular Genetics +7