Create issue ticket

4 Possible Causes for Mutation in the BMS1 Gene

  • Aplasia Cutis Congenita

    Nonsyndromic aplasia cutis congenita has been associated with a heterozygous mutation in the BMS1 gene (611448) on chromosome 10q11.[dermnetnz.org] […] in the ribosomal GTPase BMS1 gene. [12] Diagnosis [ edit ] This section is empty.[en.wikipedia.org] […] dermatological manifestation has been linked to Peptidase D haploinsufficiency and a deletion in Chromosome 19. [11] Genetics [ edit ] This condition has been linked to mutations[en.wikipedia.org]

  • Non-Syndromic Aplasia Cutis Congenita

    Nonsyndromic aplasia cutis congenita has been associated with a heterozygous mutation in the BMS1 gene (611448) on chromosome 10q11.[dermnetnz.org] […] in the ribosomal GTPase BMS1 gene. [ 6 ] See also List of cutaneous conditions References External links Aplasia cutis congenita (ACC) on emedicine Lua error in package.lua[research.omicsgroup.org] […] in the ribosomal GTPase BMS1 gene. [12] Diagnosis [ edit ] This section is empty.[en.wikipedia.org]

  • Recessive Aplasia Cutis Congenita of Limbs

    […] in the ribosomal GTPase BMS1 gene. [12] Diagnosis [ edit ] This section is empty.[en.wikipedia.org] […] dermatological manifestation has been linked to Peptidase D haploinsufficiency and a deletion in Chromosome 19. [11] Genetics [ edit ] This condition has been linked to mutations[en.wikipedia.org]

  • Aplasia Cutis - Myopia Syndrome

    […] in the ribosomal GTPase BMS1 gene. [12] Diagnosis [ edit ] This section is empty.[en.wikipedia.org] […] dermatological manifestation has been linked to Peptidase D haploinsufficiency and a deletion in Chromosome 19. [11] Genetics [ edit ] This condition has been linked to mutations[en.wikipedia.org]

Further symptoms