Possible case of Pitt-Hopkins syndrome in sibs
Author:
Publisher
Wiley
Subject
Genetics (clinical)
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2. Characterisation of CASPR2 deficiency disorder - a syndrome involving autism, epilepsy and language impairment;BMC Medical Genetics;2016-02-03
3. Pitt–Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge;Journal of Pediatric Genetics;2015-09-25
4. Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome;American Journal of Medical Genetics Part A;2014-07-16
5. Report of a patient with developmental delay, hearing loss, growth retardation, and cleft lip and palate and a deletion of 7q34-36.1: Review of distal 7q deletions;American Journal of Medical Genetics Part A;2013-05-21
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