@article {379,
	title = {Whole-Exome Sequencing Reveals  Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report.},
	journal = {Mol Syndromol},
	volume = {8},
	year = {2017},
	month = {2017 Aug},
	pages = {272-277},
	abstract = {<p>We present the case of a patient of Macedonian origin with unilateral renal agenesis and ureterovesical junction obstruction in combination with further abnormalities including midface hypoplasia, scoliosis as well as camptodactyly of one toe. Whole-exome sequencing analysis revealed compound heterozygous variants in the  gene. Recessive variants in  are a known cause of van Maldergem syndrome (VMS) in which congenital anomalies of the kidney and urinary tract are a less characteristic but common feature. The initial presentation of our patient was not clinically recognizable. However, in view of the molecular findings, the most likely diagnosis is a mild manifestation of VMS. Only very few publications have reported patients with VMS and mutations in  to date. With this case, we hope to provide further insight into the phenotypic variability of this syndrome.</p>},
	issn = {1661-8769},
	doi = {10.1159/000477750},
	author = {van der Ven, Amelie T and Shril, Shirlee and Ityel, Hadas and Vivante, Asaf and Chen, Jing and Hwang, Daw-Yang and Laricchia, Kristen M and Lek, Monkol and Tasic, Velibor and Hildebrandt, Friedhelm}
}
