Expanding the phenotype and the genotype of Stromme syndrome: A novel variant of the CENPF gene and literature review-Reference-Cited by-同舟云学术

Expanding the phenotype and the genotype of Stromme syndrome: A novel variant of the CENPF gene and literature review

Published:2020-05 Issue:5 Volume:63 Page:103844
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Alghamdi Malak,Alkhamis Waleed H.,Bashiri Fahad A.,Jamjoom Dima,Al-Nafisah Ghada,Tahir Asma,Abdouelhoda Mohamed

Funder

Dallah health reseach grant College of Medicine Research Center, King Saud University

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference16 articles.

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2. The Ciliopathy Gene Ftm/Rpgrip1l Controls Mouse Forebrain Patterning via Region-Specific Modulation of Hedgehog/Gli Signaling;Abraham;Journal of Neuroscience,2019

3. Apple-peel" intestinal atresia, ocular anomalies, and microcephaly syndrome: brain magnetic resonance imaging study;Bellini;Am. J. Med. Genet.,2002

4. New case of "apple-peel" intestinal atresia and ocular anomalies with mosaic variegated aneuploidy;Bower;Am. J. Med. Genet. A,2003

5. Jejunal atresia and anterior chamber anomalies: further delineation of the Stromme syndrome;Castori;Eur. J. Med. Genet.,2010

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2. Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome;Genes;2023-10-24

3. Holoprosencephaly: Review of Embryology, Clinical Phenotypes, Etiology and Management;Children;2023-03-30

4. Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2022-03

5. Patterning of the antero‐ventral mammalian brain: Lessons from holoprosencephaly comparative biology in man and mouse;WIREs Mechanisms of Disease;2022-02-08