Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome.

doi:10.1002/ajmg.a.36513

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Article

Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome.

American journal of medical genetics. Part A - 1 Jul 2014

Disciglio Vittoria, Lo Rizzo Caterina, Mencarelli Maria Antonietta, Mucciolo Mafalda, Marozza Annabella, Di Marco Chiara, Massarelli Antonio, Canocchi Valentina, Baldassarri Margherita, Ndoni Enea, Frullanti Elisa, Amabile Sonia, Anderlid Britt Marie, Metcalfe Kay, Le Caignec Cédric, David Albert, Fryer Alan, Boute Odile, Joris Andrieux, Greco Donatella, Pecile Vanna, Battini Roberta, Novelli Antonio, Fichera Marco, Romano Corrado, Mari Francesca, Renieri Alessandra

Abstract excerpt

Phelan-McDermid syndrome (22q13.3 deletion syndrome) is a contiguous gene disorder resulting from the deletion of the distal long arm of chromosome 22. SHANK3, a gene within the minimal critical region, is a candidate gene for the major neurological features of this syndrome. We report clinical and molecular data from a study of nine patients with overlapping interstitial deletions in 22q13 not involving SHANK3....

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PMID: 24700646
DOI: 10.1002/ajmg.a.36513

Genes

PARVB
PTEN

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