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The R245X Mutation of PCDH15 in Ashkenazi Jewish Children Diagnosed with Nonsyndromic
 

Summary: The R245X Mutation of PCDH15 in Ashkenazi
Jewish Children Diagnosed with Nonsyndromic
Hearing Loss Foreshadows Retinitis Pigmentosa
ZIPPORA BROWNSTEIN, TAMAR BEN-YOSEF, ORIT DAGAN, MOSHE FRYDMAN,
DVORAH ABELIOVICH, MICHAL SAGI, FABIAN A. ABRAHAM, RIKI TAITELBAUM-SWEAD,
MORDECHAI SHOHAT, MINKA HILDESHEIMER, THOMAS B. FRIEDMAN, AND
KAREN B. AVRAHAM
Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University,
Tel Aviv 69978, Israel [Z.B., O.D., M.F., K.B.A.]; Section on Human Genetics, Laboratory of Molecular
Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of
Health, Rockville, Maryland 20850, USA [T.B., T.B.F.]; Danek Gertner Institute of Genetics, Chaim
Sheba Medical Center, Tel-Hashomer 52621, Israel [M.F.]; Department of Human Genetics, Hadassah
Hebrew University Hospital and Medical School, Jerusalem 91120, Israel [D.A., M.S.]; Goldschleger Eye
Institute, Chaim Sheba Medical Center, Tel-Hashomer 52621, Israel [F.A.A.]; Department of
Communication Disorders, Sackler School of Medicine, Tel Aviv University and Chaim Sheba Medical
Center, Tel-Hashomer 52621, Israel [R.T.-S., M.H.]; Department of Medical Genetics, Rabin Medical
Center, Beilinson Campus, Petah Tikva 49100, Israel. [M.S.]
Usher syndrome is a frequent cause of the combination of
deafness and blindness due to retinitis pigmentosa (RP). Five
genes are known to underlie different forms of Usher syndrome

  

Source: Avraham, Karen - Department of Human Genetics and Molecular Medicine, Tel Aviv University

 

Collections: Biology and Medicine