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- W2021823285 abstract "Uncombable or spun-glass hair (pili trianguli et canaliculi) is an uncommon condition in which the hair is “unmanageable” and has a distinct appearance on scanning electron microscopy. The hair is usually grossly abnormal in infancy and childhood, but may become normal later in life. Although dominant inheritance ahas been observed, most cases have been sporadic. Both receissive and dominant transmission with incomplete penetrance have been sporadic. Both recessive and dominant transmission with incomplete penetrance have been suggested as modes of inheritance. We report the occurrence of this condition in a young girl, her brother, and her father. Although the proposital and her brother had characterisstically uncombable hair, their father appeared normal and denied any history of hair abnormality. However, the characteristic hair morphology was observed on scanning electron microscopy in all 3 relatives, documenting dominnat transmission and complete penetrance of the gene in this family." @default.
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- W2021823285 date "1987-09-01" @default.
- W2021823285 modified "2023-09-27" @default.
- W2021823285 title "Uncombable hair (pili trianguli et Canaliculi): Evidence for dominant inheritance with complete penetrance based on scanning electron microscopy" @default.
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- W2021823285 doi "https://doi.org/10.1002/ajmg.1320280126" @default.
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