A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes

Thomas Schwarzbraun; Lisa Ofner; Gabriele Gillessen-Kaesbach; Barbara Schaperdoth; Karl Heinz Preisegger; Christian Windpassinger; Klaus Wagner; Erwin Petek; Peter M. Kroisel

doi:10.1002/ajmg.a.31627

A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes

Thomas Schwarzbraun, Lisa Ofner, Gabriele Gillessen-Kaesbach, Barbara Schaperdoth, Karl Heinz Preisegger, Christian Windpassinger, Klaus Wagner, Erwin Petek, Peter M. Kroisel^*

^*Corresponding author for this work

Institute of Human Genetics

16 Citations (Scopus)

Original language	English
Journal	American Journal of Medical Genetics, Part A
Volume	143
Issue number	6
Pages (from-to)	619-624
Number of pages	6
ISSN	1552-4825
DOIs	https://doi.org/10.1002/ajmg.a.31627
Publication status	Published - 15.03.2007

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Research Area: Medical Genetics

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Schwarzbraun, T., Ofner, L., Gillessen-Kaesbach, G., Schaperdoth, B., Preisegger, K. H., Windpassinger, C., Wagner, K., Petek, E., & Kroisel, P. M. (2007). A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes. American Journal of Medical Genetics, Part A, 143(6), 619-624. https://doi.org/10.1002/ajmg.a.31627

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title = "A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes",

author = "Thomas Schwarzbraun and Lisa Ofner and Gabriele Gillessen-Kaesbach and Barbara Schaperdoth and Preisegger, {Karl Heinz} and Christian Windpassinger and Klaus Wagner and Erwin Petek and Kroisel, {Peter M.}",

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Schwarzbraun, T, Ofner, L, Gillessen-Kaesbach, G, Schaperdoth, B, Preisegger, KH, Windpassinger, C, Wagner, K, Petek, E & Kroisel, PM 2007, 'A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes', American Journal of Medical Genetics, Part A, vol. 143, no. 6, pp. 619-624. https://doi.org/10.1002/ajmg.a.31627

TY - JOUR

T1 - A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes

AU - Schwarzbraun, Thomas

AU - Ofner, Lisa

AU - Gillessen-Kaesbach, Gabriele

AU - Schaperdoth, Barbara

AU - Preisegger, Karl Heinz

AU - Windpassinger, Christian

AU - Wagner, Klaus

AU - Petek, Erwin

AU - Kroisel, Peter M.

PY - 2007/3/15

Y1 - 2007/3/15

UR - http://www.scopus.com/inward/record.url?scp=33847347222&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.31627

DO - 10.1002/ajmg.a.31627

M3 - Journal articles

C2 - 17318840

AN - SCOPUS:33847347222

SN - 1552-4825

VL - 143

SP - 619

EP - 624

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 6

ER -

A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes

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UN SDGs

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