Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Kevin Babu"'
Autor:
Kevin Babu, Kimberly Seamon, Ann Jewell, Anna Harrison, Amy Harper, Hind Al Saif, Natario Couser
Publikováno v:
Ophthalmic Genetics. :1-6
Hereditary Motor Sensory Neuropathy Type VIA with Optic Atrophy (HMSN6A) is a rare variant subtype of mitofusin 2 (HMSN6A is a neurologic disorder characterized by a motor sensory axonal neuropathy and optic atrophy. A range of additional ophthalmic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e67c642221822ab38f904e78093e2629
https://doi.org/10.1080/13816810.2022.2116651
https://doi.org/10.1080/13816810.2022.2116651
Autor:
Hind Al Saif, Tawany Almeida, Kevin Babu, Gurjas S. Bajaj, Maya Bitar, Vikram S. Brar, Jana Bregman, Natario L. Couser, Sara Fard, Yurika Hara, Jennifer Humberson, Thomas Hunter, Amy K. Hutchinson, Mona Kaleem, O'Rese J. Knight, Scott R. Lambert, Eleanor Love, Maheer Masood, Michaela Mathews, Rakhi Melvani, Payton M. Miller, Mariam Nasir, Harrison Ngo, Chetna Pande, Arti Pandya, Adam E. Pflugrath, Cynthia M. Powell, Jessica Randolph, Jennifer Rhodes, Nikisha Q. Richards, Dev R. Sahni, Dhruv Sethi, Suma P. Shankar, Evan Silverstein, Laurie D. Smith, Janine Smith-Marshall, Daniela Toffoli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::02850d67d525cad7fc79afa7c43ffcb0
https://doi.org/10.1016/b978-0-323-65414-2.01002-3
https://doi.org/10.1016/b978-0-323-65414-2.01002-3
This chapter focuses on the eye and external ocular adnexa abnormalities associated with the most common disorders of the autosomes and sex chromosomes. Common sex chromosomal disorders include Turner syndrome in females with a single X chromosome, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c721aeb240630173a9fb7e568d51ad51
https://doi.org/10.1016/b978-0-323-65414-2.00001-5
https://doi.org/10.1016/b978-0-323-65414-2.00001-5