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A new syndrome of microtia with mixed type hearing loss, renal agenesis, and multiple skeletal anomalies

โœ Scribed by Yavuz Demir; Hale Samli; Aylin Yucel; M. Deniz Yilmaz; Nurten Turhan Haktanir; Gokhan Maralcan; Mustafa Solak


Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
225 KB
Volume
140A
Category
Article
ISSN
1552-4825

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โœ Stratakis, Constantine A.; Lin, Jing Ping; Rennert, Owen M. ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 28 KB ๐Ÿ‘ 2 views

It has been suggested that branchio-oculo-facial (BOF) syndrome, deafness with ear pits, and associated conditions [MIM nos. 125100, 120502], and branchio-oto-renal (BOR) [MIM no. 113650] or Melnick-Fraser syndrome represent phenotypic variants of the BOR syndrome, which is inherited in an autosomal