Nancy Choucair Cecile Mignon-Ravix Pierre Cacciagli Joelle Abou Ghoch Ali Fawaz André Mégarbané Laurent Villard Eliane Chouery
10.1186/s13039-015-0149-0
Mol Cytogenet
2015 Jun 16;8:39.
hearing loss intellectual disability monosomy 9p protein tyrosine phosphatase receptor delta trigonocephaly
CC BY
https://pubmed.ncbi.nlm.nih.gov/26082802/
Case Reports
PMC4469107
26082802
Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability
2015