id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_ttxjqborx5au7htsr53y5dqldu	Matej Skorvanek	Neurodevelopmental disorder associated with IRF2BPL gene mutation: Expanding the phenotype?	2019.0	7	.pdf	application/pdf	6080	2693	86	NIHR BioResource Rare Diseases project RG65966; Newlife Foundation for Disabled Children, Grant/Award Number: to AC EB; Retina UK; University of Exeter, single patient with biallelic loss of function (LOF) SCAPER variants patients with SCAPER syndrome include cataracts (in two individuals) Our clinical and genetic studies in six affected individuals, including additional new clinical details for Patient 3, (Carss et al., 2017) take described in eight individuals from two consanguineous Bedouin families of the same tribe in southern Israel, were also identified as a consistent feature in the two Amish siblings, confirming the association of of both Amish siblings, have not been previously noted in other individuals with SCAPER variants. c.2023-2A>G SCAPER gene variant has also been reported previously in association with RP, ADHD, and mild ID (Tatour et al., features of SCAPER syndrome patients. genetic testing for this SCAPER variant for Amish individuals with this	./cache/work_ttxjqborx5au7htsr53y5dqldu.pdf	./txt/work_ttxjqborx5au7htsr53y5dqldu.txt