S. Leal

Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene

Varga, R, Kelley, P, Keats, B, Starr, A, Leal, S, Cohn, E, ...

A novel locus for autosomal recessive form of hypotrichosis maps to chromosome 3q26.33–q27.3

Aslam, M, Chahrour, M, Razzaq, A, Haque, S, Yan, K, Leal, S, ...

Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)

Ferguson, P, Chen, S, Tayeh, M, Ochoa, L, Leal, S, Pelet, A, ...

Background: Majeed syndrome is an autosomal recessive, autoinflammatory disorder characterised by chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. The objectives...