Publications:

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.

Kidney International

Hwang, Daw-Yang DY; Dworschak, Gabriel C GC; Kohl, Stefan S; Saisawat, Pawaree P; Vivante, Asaf A; Hilger, Alina C AC; Reutter, Heiko M HM; Soliman, Neveen A NA; Bogdanovic, Radovan R; Kehinde, Elijah O EO; Tasic, Velibor V; Hildebrandt, Friedhelm F

Publication Date: 2014-06

Variant appearance in text: RET: 2110G>T; V704F

PubMed Link: 24429398

Variant Present in the following documents:

• Main text

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Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis.

Kidney International

Saisawat, Pawaree P; Tasic, Velibor V; Vega-Warner, Virginia V; Kehinde, Elijah O EO; Günther, Barbara B; Airik, Rannar R; Innis, Jeffrey W JW; Hoskins, Bethan E BE; Hoefele, Julia J; Otto, Edgar A EA; Hildebrandt, Friedhelm F

Publication Date: 2012-01

Variant appearance in text: RET: 2110G>T; V704F

PubMed Link: 21900877

Variant Present in the following documents:

• Main text

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