Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation

פריטים דומים

• Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
  מאת: Raykova, Doroteya, et al.
  יצא לאור: (2014)
• Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.
  מאת: Doroteya Raykova, et al.
  יצא לאור: (2014-01-01)
• A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair
  מאת: Tariq, Muhammad, et al.
  יצא לאור: (2012)
• A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency
  מאת: Jameel, Muhammad, et al.
  יצא לאור: (2014)
• Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I)
  מאת: Khan, Tahir Naeem, et al.
  יצא לאור: (2012)