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Phenotypic Variation of SF1 Gene Mutations
2011Knockout of the steroidogenic factor 1 (Sf1) gene in 46,XY mice causes complete adrenal failure associated with gonadal dysgenesis, undervirilization, and persistence of mullerian ducts [1]. SF1 (NR5A1, SF1/Ad4BP/FTZF1) is a member of the nuclear receptor superfamily, and it plays a crucial role in the fetal development of the adrenal gland [2] and ...
Pascal, Philibert +17 more
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Phenotypic variation in the del(12p) syndrome
American Journal of Medical Genetics, 1985AbstractPrevious reports suggested the existence of a del(12p) syndrome. Phenotypic abnormalities associated with del(12p) appear to be mental retardation, microcephaly, and micrognathia. The patient with del(12p) reported here was normocephalic and large for gestational age.
Jane D. Kivlin +4 more
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Race and global patterns of phenotypic variation
American Journal of Physical Anthropology, 2009AbstractPhenotypic traits have been used for centuries for the purpose of racial classification. Developments in quantitative population genetics have allowed global comparison of patterns of phenotypic variation with patterns of variation in classical genetic markers and DNA markers.
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[Phenotypic variation in ALS].
Rinsho shinkeigaku = Clinical neurology, 2007Making a diagnosis of typical amyotrophic lateral sclerosis (ALS) is not a tough job, but when it comes to atypical forms of motor neuron disease (MND) which are not uncommon in clinical setting, we may have some difficulty to diagnose ALS/MND. There is striking phenotypic variation in sporadic ALS/MND, such as frail arm syndrome (brachial amyotrophic ...
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“Phenotypic variations of hypertension at high altitude”
Hypertension Research, 2022Offdan, Narvaez-Guerra +1 more
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