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Linkage of Infantile Bartter Syndrome with Sensorineural Deafness to Chromosome 1p

โœ Scribed by Theresa M.H. Brennan; Daniel Landau; Hana Shalev; Fred Lamb; Brian C. Schutte; Roxanne Y. Walder; Allyn L. Mark; Rivka Carmi; Val C. Sheffield


Book ID
117852285
Publisher
American Society of Human Genetics
Year
1998
Tongue
English
Weight
698 KB
Volume
62
Category
Article
ISSN
0002-9297

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Barraquer-Simons syndrome (with sensorin
โœ Spranger, Stephanie; Spranger, Matthias; Tasman, Abel-Jan; Reith, Wolfgang; Voig ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 20 KB ๐Ÿ‘ 2 views

Among the lipodystrophies, the Barraquer-Simons syndrome is a rare condition. We describe a 27-year-old woman with progressive loss of subcutaneous fat after 15 years first affecting the face and spreading to the upper part of the body. She also suffered from deafness and had marked changes in crani