Mutational analysis of Sonic Hedgehog (SHH) gene in Polydactyly families from Balochistan, Pakistan
نویسندگان
چکیده
منابع مشابه
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.
Holoprosencephaly (HPE) is a common developmental anomaly of the human forebrain and midface where the cerebral hemispheres fail to separate into distinct left and right halves. We have previously reported haploinsufficiency for Sonic Hedgehog ( SHH ) as a cause for HPE. We have now performed mutational analysis of the complete coding region and intron-exon junctions of the SHH gene in 344 unre...
متن کاملRole of Sonic Hedgehog (Shh) in Alcohol-Induced Craniofacial Abnormalities
Prenatal exposure to alcohol (ethanol) results in a continuum of physical and neurological developmental abnormalities that vary depending on the timing, duration, and degree of alcohol exposure. Heavy exposure during development may lead to the condition Fetal Alcohol Syndrome [6] (FAS), characterized by growth deficits, neurological deficiencies and minor facial abnormalities. Alcohol is a kn...
متن کاملRole of Sonic Hedgehog (Shh) in Alcohol-Induced Craniofacial Abnormalities
Prenatal exposure to alcohol (ethanol) results in a continuum of physical and neurological developmental abnormalities that vary depending on the timing, duration, and degree of alcohol exposure. Heavy exposure during development may lead to the condition Fetal Alcohol Syndrome [6] (FAS), characterized by growth deficits, neurological deficiencies and minor facial abnormalities. Alcohol is a kn...
متن کاملRole of Sonic Hedgehog (Shh) in Alcohol-Induced Craniofacial Abnormalities
Prenatal exposure to alcohol (ethanol) results in a continuum of physical and neurological developmental abnormalities that vary depending on the timing, duration, and degree of alcohol exposure. Heavy exposure during development may lead to the condition Fetal Alcohol Syndrome [6] (FAS), characterized by growth deficits, neurological deficiencies and minor facial abnormalities. Alcohol is a kn...
متن کاملRole of Sonic Hedgehog (Shh) in Alcohol-Induced Craniofacial Abnormalities
Prenatal exposure to alcohol (ethanol) results in a continuum of physical and neurological developmental abnormalities that vary depending on the timing, duration, and degree of alcohol exposure. Heavy exposure during development may lead to the condition Fetal Alcohol Syndrome [6] (FAS), characterized by growth deficits, neurological deficiencies and minor facial abnormalities. Alcohol is a kn...
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ژورنال
عنوان ژورنال: Pure and Applied Biology
سال: 2021
ISSN: 2304-2478
DOI: 10.19045/bspab.2021.100083