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Autosomal recessive traits

Identification of homozygous missense variant in SIX5 gene underlying recessive nonsyndromic hearing impairment

Mohib Ullah Kakar, Muhammad Akram, [ ... ], Misbahuddin M. Rafeeq

Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis—Like Autosomal Recessive Congenital Ichthyosis

Cherine Charfeddine, Nadia Laroussi, [ ... ], Houda Hammami-Ghorbel

Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family

Xiaodong Jiao, Shahid Y. Khan, [ ... ], S. Amer Riazuddin

Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability

Megan McSherry, Katherine E. Masih, [ ... ], Mustafa Tekin

Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss

Amina Bakhchane, Majida Charif, [ ... ], Abdelhamid Barakat

Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia

Zafar Iqbal, Siri L. Rydning, [ ... ], Mathias Toft

Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts

Bushra Irum, Shahid Y. Khan, [ ... ], S. Amer Riazuddin

A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts

Xiaodong Jiao, Firoz Kabir, [ ... ], S. Amer Riazuddin

Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss

Tahir Atik, Huseyin Onay, [ ... ], Ferda Ozkinay

Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts

Xiaodong Jiaox, Shahid Y. Khan, [ ... ], S. Amer Riazuddin

The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families

Behzad Davarniya, Hao Hu, [ ... ], Hossein Najmabadi

Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family

Xue Gao, Yu Su, [ ... ], Pu Dai

Diagnostics of Primary Immunodeficiency Diseases: A Sequencing Capture Approach

Lotte N. Moens, Elin Falk-Sörqvist, [ ... ], Mats Nilsson

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