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Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases.

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Title: Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases.
Authors: Tehrani Fateh, Sahand1,2 (AUTHOR), Mohammad Zadeh, Nadia3 (AUTHOR), Salehpour, Shadab4 (AUTHOR), Hashemi-Gorji, Farzad5 (AUTHOR), Omidi, Ashkan3 (AUTHOR), Sadeghi, Hossein6 (AUTHOR), Mirfakhraie, Reza6 (AUTHOR), Moghimi, Parinaz1,3 (AUTHOR), Keyvanfar, Sepideh1 (AUTHOR), Mohammadi Sarvaleh, Sepideh1 (AUTHOR), Miryounesi, Mohammad1,5 (AUTHOR) miryounesi@gmail.com, Ghasemi, Mohammad-Reza1,6 (AUTHOR) ghasemimr891@gmail.com
Source: BMC Medical Genomics. 1/12/2024, Vol. 17 Issue 1, p1-9. 9p.
Database: Academic Search Ultimate
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  Data: <searchLink fieldCode="JN" term="%22BMC+Medical+Genomics%22">BMC Medical Genomics</searchLink>. 1/12/2024, Vol. 17 Issue 1, p1-9. 9p.
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        Value: 10.1186/s12920-024-01798-7
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              Text: 1/12/2024
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