Phelan-McDermid syndrome presenting with autistic spectrum: are we underdiagnosing chromosomal diseases in patients with autism?

[1]  V. Napolioni,et al.  Autism genetics , 2013, Behavioural Brain Research.

[2]  D. Zafeiriou,et al.  Autism spectrum disorders: The quest for genetic syndromes , 2013, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

[3]  N. de Leeuw,et al.  Phelan–McDermid syndrome: Clinical report of a 70‐year‐old woman , 2013, American journal of medical genetics. Part A.

[4]  N. Delanty,et al.  Complex single gene disorders and epilepsy , 2012, Epilepsia.

[5]  W. Verhoeven,et al.  Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype? , 2012, Neuropsychiatric disease and treatment.

[6]  H. McDermid,et al.  The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome) , 2011, Molecular Syndromology.

[7]  Luigi Boccuto,et al.  Association between deletion size and important phenotypes expands the genomic region of interest in Phelan–McDermid syndrome (22q13 deletion syndrome) , 2011, Journal of Medical Genetics.

[8]  A. Merkenschlager,et al.  [Muscular hypotonia, developmental retardation, speech delay and mildly dysmorphic features: 22q13 deletion syndrome (Phelan-McDermid Syndrome) as an important differential diagnosis]. , 2008, Klinische Padiatrie.

[9]  M. C. Phelan.  Orphanet Journal of Rare Diseases BioMed Central Review Deletion 22q13.3 syndrome , 2008 .

[10]  H. Hoyme,et al.  22q13.3 deletion syndrome: A recognizable malformation syndrome associated with marked speech and language delay , 2007, American journal of medical genetics. Part C, Seminars in medical genetics.

[11]  A. Leung,et al.  Tuberous sclerosis complex: a review. , 2007, Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners.

[12]  J. Dumanski,et al.  Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3. , 1994, American journal of human genetics.

[13]  Robert C. Wolpert,et al.  A Review of the , 1985 .