DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA; DFNA1

Literature (1)

Literature for OMIM 124900: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA; DFNA1

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Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement., Deforie VG,Maroofian R,Karagoz I,Godwin A,Al Sheikh E,Zaki MS,Woodward BL,Ghorab RM,Alvi JR,Alabdi L,Damseh N,Elshafie RM,Alves C,Shaikh M,Özcan GG,Sadek AA,Issa MY,Striano P,Suri M,Murphy D,Ashhab M,Pérez de la Fuente R,Arteche-López A,Hashem MO,Abdulwahab F,Aboelanine AH,Alkhawaja IA,Ibrahim S,Berghuis D,Santen GWE,Toosi MB,Alerasool M,Eslahi A,Srinivasan VM,Gowda VK,Trollmann R,Vasileiou G,Pauly M,Hashemi-Gorji F,Miryounesi M,Salpietro V,Al-Herz W,Carter SP,Briggs TA,Hussell T,Komulainen-Ebrahim J,Uusimaa J,Hautala T,Potluri S,Shackley F,Mojarrad M,Chung WK,Wilson SW,Sultan T,Gleeson JG,Marafi D,Alkuraya FS,Stewart GS,Efthymiou S,Guille M,Arkwright PD,Houlden H,Gestri G,Scardamaglia A,van der Burg M,Ruuska-Loewald T, Genet Med. March 16, 2026; :1530-0366.

Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement., Deforie VG,Maroofian R,Karagoz I,Godwin A,Al Sheikh E,Zaki MS,Woodward BL,Ghorab RM,Alvi JR,Alabdi L,Damseh N,Elshafie RM,Alves C,Shaikh M,Özcan GG,Sadek AA,Issa MY,Striano P,Suri M,Murphy D,Ashhab M,Pérez de la Fuente R,Arteche-López A,Hashem MO,Abdulwahab F,Aboelanine AH,Alkhawaja IA,Ibrahim S,Berghuis D,Santen GWE,Toosi MB,Alerasool M,Eslahi A,Srinivasan VM,Gowda VK,Trollmann R,Vasileiou G,Pauly M,Hashemi-Gorji F,Miryounesi M,Salpietro V,Al-Herz W,Carter SP,Briggs TA,Hussell T,Komulainen-Ebrahim J,Uusimaa J,Hautala T,Potluri S,Shackley F,Mojarrad M,Chung WK,Wilson SW,Sultan T,Gleeson JG,Marafi D,Alkuraya FS,Stewart GS,Efthymiou S,Guille M,Arkwright PD,Houlden H,Gestri G,Scardamaglia A,van der Burg M,Ruuska-Loewald T, Genet Med. March 16, 2026; :1530-0366.