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[Genetics of complex and syndromic palmoplantar keratoderma].
Sperelakis-Beedham B, Lopez M, Girodon E, Hickman G, Bourrat E, Bienvenu T. Sperelakis-Beedham B, et al. Ann Biol Clin (Paris). 2021 Dec 1;79(6):551-565. doi: 10.1684/abc.2021.1688. Ann Biol Clin (Paris). 2021. PMID: 34961738 Review. French.
Hereditary PPKs can be classified into 3 groups: 1) isolated non-syndromic PPKs; 2) complex non-syndromic PPKs associated with other ectodermal defects; and 3) syndromic PPKs associated with extracutaneous manifestations. All types of inheritance have been observed: autosomal
Hereditary PPKs can be classified into 3 groups: 1) isolated non-syndromic PPKs; 2) complex non-syndromic PPKs associated with other ectoder …
[Genetic aspects of deafness].
Dallapiccola B, Mingarelli R, Gennarelli M, Novelli G. Dallapiccola B, et al. Acta Otorhinolaryngol Ital. 1996 Apr;16(2):79-90. Acta Otorhinolaryngol Ital. 1996. PMID: 8766069 Review. Italian.
Over 75% of congenital non-syndromic hearing sensorineural hearing impairment is autosomal recessive and to date at lest ten loci have been implicated. The remaining forms are transmitted in an autosomal dominant, or X-linked (2%) manner. Some c …
Over 75% of congenital non-syndromic hearing sensorineural hearing impairment is autosomal recessive and to date …