A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family

Eitemau Tebyg

• Co-Occurrence of Autosomal Recessive Lamellar Ichthyosis and X-Linked Recessive Ichthyosis in a Consanguineous Pakistani Family
  gan: Karim, Noreen, et al.
  Cyhoeddwyd: (2019)
• Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis
  gan: Ullah, Rahim, et al.
  Cyhoeddwyd: (2015)
• Genetic dissection of two Pakistani families with consanguineous localized autosomal recessive hypotrichosis (LAH)
  gan: Abbas, Seyyedha, et al.
  Cyhoeddwyd: (2014)
• Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2
  gan: Santos-Cortez, Regie Lyn P., et al.
  Cyhoeddwyd: (2016)
• Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene
  gan: Lee, Kwanghyuk, et al.
  Cyhoeddwyd: (2011)