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BARDET-BIEDL SYNDROME 6
Known as:
BBS6
National Institutes of Health
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Related topics
Related topics
14 relations
Autosomal recessive inheritance
Cystic kidney
Diabetes Mellitus
Hypospadias
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Broader (1)
Bardet-Biedl Syndrome
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Novel mutation in MKKS/BBS6 linked with arRP and polydactyly in a family of North Indian origin
S. Goyal
,
I. Singh
,
V. Vanita
Clinical and Experimental Ophthalmology
2020
Corpus ID: 210934278
To identify the underlying genetic defect in a fourth‐generation autosomal recessive retinitis pigmentosa (arRP) family. Detailed…
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Review
2017
Review
2017
[Patho-physiology of renal dysfunction in Bardet-Biedl Syndrome].
Enrica Zona
,
M. Zacchia
,
V. Di Iorio
,
G. Capolongo
,
L. Rinaldi
,
G. Capasso
Giornale Italiano di Nefrologia
2017
Corpus ID: 27981688
Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive disorder with renal and extra-renal involvement. The wide spectrum of…
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2005
2005
The molecular and functional genetics of Bardet-Biedl Syndrome
B. Hoskins
2005
Corpus ID: 83413589
Bardet-Biedl Syndrome (BBS) is a rare genetic disease comprising obesity, retinal dystrophy, Polydactyly and renal abnormalities…
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2005
2005
Zur Frage der Vererbung des Bardet-Biedl-Syndroms (BBS) - Molekulargenetische Analysen in den Genen BBS1 und BBS6
B. Frick
2005
Corpus ID: 165535692
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