A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2

Autor: Lalwani, A. K., Brister, J. R., Fex, J., Grundfast, K. M., Pikus, A. T., Ploplis, B., San Agustin, T., Skarka, H., Wilcox, E. R.

X-linked deafness is a rare cause of hereditary hearing impairment. We have identified a family with X-linked dominant sensorineural hearing impairment, characterized by incomplete penetrance and variable expressivity in carrier females, that is link

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d8408a949a0d9793604e82e6e8ed7bcd
https://europepmc.org/articles/PMC1918282/

A human recessive neurosensory nonsyndromic hearing impairment locus is potential homologue of murine deafness (dn) locus.

Autor: Jain PK; Labortory of Molecular Genetics, National Insitute of Deafness and Other Communiable Disorders, National Institues of Health, Rockville, Maryland, 20850-3227, USA., Fukushima K, Deshmukh D, Ramesh A, Thomas E, Lalwani AK, Kumar S, Plopis B, Skarka H, Srisailapathy CR, et. al.

Publikováno v: Human molecular genetics [Hum Mol Genet] 1995 Dec; Vol. 4 (12), pp. 2391-4.

A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2.

Autor: Lalwani AK; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892., Brister JR, Fex J, Grundfast KM, Pikus AT, Ploplis B, San Agustin T, Skarka H, Wilcox ER

Publikováno v: American journal of human genetics [Am J Hum Genet] 1994 Oct; Vol. 55 (4), pp. 685-94.

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Waardenburg syndrome type 2A in a large Iranian family with a novel MITF gene mutation.

Autor: Zardadi, Safoura¹ (AUTHOR), Rayat, Sima¹ (AUTHOR), Hassani Doabsari, Maryam² (AUTHOR), Keramatipour, Mohammad³ (AUTHOR), Morovvati, Saeid⁴ (AUTHOR) morovvati@iautmu.ac.ir

Publikováno v: BMC Medical Genomics. 9/20/2021, Vol. 14 Issue 1, p1-8. 8p.