Isolated congenital anosmia locus maps to 18p11.23-q12.2
نویسندگان
چکیده
منابع مشابه
Isolated congenital anosmia locus maps to 18p11.23-q12.2.
I solated congenital anosmia (MIM 107200) is a very rare condition characterised by a complete smelling defect that is present from birth in otherwise normal subjects. To our knowledge, nine sporadic cases of isolated congenital anosmia have been known, 2 and patients reported by Lygonis and those by us were only familial isolated congenital anosmia. Other cases of familial congenital anosmia h...
متن کاملLETTER TO JMG Isolated congenital anosmia locus maps to 18p11.23-q12.2
I solated congenital anosmia (MIM 107200) is a very rare condition characterised by a complete smelling defect that is present from birth in otherwise normal subjects. To our knowledge, nine sporadic cases of isolated congenital anosmia have been known, 2 and patients reported by Lygonis and those by us were only familial isolated congenital anosmia. Other cases of familial congenital anosmia h...
متن کاملClinical Features of Congenital Anosmia
The objective of the study was to evaluate the clinical features of congenital anosmia. We retrospectively analyzed 205 patients at our hospital for olfactory disturbances over a 4-year period. The overall prevalence of congenital anosmia was found to be 3.4% (7/205). Magnetic resonance imaging of the brain revealed the absence of the olfactory bulbs, tracts, and hypoplasia of the olfactory sul...
متن کاملMagnetic Resonance Imaging Findings of a Patient with Congenital Anosmia
We present a case of congenital anosmia in a 23-year-old man. He was unable to sense smell since birth. He showed scale-out results on T&T olfactogram. Brain magnetic resonance imaging (MRI) detected absence of the olfactory bulbs, tracts, and hypoplasia of the olfactory sulci. MRI findings were useful for diagnosing and confirming congenital anosmia.
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Primary congenital glaucoma (gene symbol: GLC3) is an ocular disorder that occurs for 0.01-0.04% of blind people. In the majority of familial cases reported so far, this condition is inherited as an autosomal recessive trait. We have recently used a group of 17 GLC3 families with a minimum of two affected offspring and consanguinity in most of the parental generation and mapped the first GLC3 l...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2004
ISSN: 1468-6244
DOI: 10.1136/jmg.2003.015313