Two patients with intellectual disability, overlapping facial features, and overlapping deletions in 6p25.1p24.3

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Title:	Two patients with intellectual disability, overlapping facial features, and overlapping deletions in 6p25.1p24.3
Author(s):	Kuipers, B.C.; Vulto-van Silfhout, A.T. ; Marcelis, C.L.M. ; Pfundt, R.P. ; Leeuw, N. de ; Vries, B. de
Publication year:	2013
Source:	Clinical Dysmorphology, vol. 22, iss. 1, (2013), pp. 18-21
ISSN:	0962-8827
DOI:	https://doi.org/10.1097/MCD.0b013e32835b6e39
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : https://hdl.handle.net/2066/117903
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Subject:	IGMD 3: Genomic disorders and inherited multi-system disorders IGMD 3: Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory NCMLS 6: Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory NCMLS 6: Genetics and epigenetic pathways of disease IGMD 3: Genomic disorders and inherited multi-system disorders
Organization:	Human Genetics
Journal title:	Clinical Dysmorphology
Volume:	vol. 22
Issue:	iss. 1
Page start:	p. 18
Page end:	p. 21
Abstract:	The clinical and molecular characterizations of two patients with a 1.4 Mb overlapping deletion in the 6p25.1p24.3 region are reported. In addition to the mild intellectual disability, they shared feeding problems in infancy and several dysmorphic facial features including a prominent forehead, almond-shaped eyes, a short philtrum, and low-set ears with square helices. The overlapping deleted region harbors six genes (RREB1, NRN1, CAGE1, LY86, SSR1, and F13A1), of which NRN1 and RREB1 are considered as candidate genes for the intellectual disability and the overlapping dysmorphism, respectively.