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4. [Muscular hypotonia, developmental retardation, speech delay and mildly dysmorphic features: 22q13 deletion syndrome (Phelan-McDermid Syndrome) as an important differential diagnosis]. Strenge S; Froster UG; Kujat A; Bernhard M; Merkenschlager A Klin Padiatr; 2008; 220(5):318-20. PubMed ID: 18814345 [TBL] [Abstract][Full Text] [Related]
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10. Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome). Sarasua SM; Dwivedi A; Boccuto L; Rollins JD; Chen CF; Rogers RC; Phelan K; DuPont BR; Collins JS J Med Genet; 2011 Nov; 48(11):761-6. PubMed ID: 21984749 [TBL] [Abstract][Full Text] [Related]
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12. Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability. Naoufal R; Legendre M; Couet D; Gilbert-Dussardier B; Kitzis A; Bilan F; Harbuz R Eur J Med Genet; 2016 Sep; 59(9):483-7. PubMed ID: 27452446 [TBL] [Abstract][Full Text] [Related]
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20. Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype. Prasad C; Prasad AN; Chodirker BN; Lee C; Dawson AK; Jocelyn LJ; Chudley AE Clin Genet; 2000 Feb; 57(2):103-9. PubMed ID: 10735630 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]