Additional causal SNRPE mutations in hereditary hypotrichosis simplex. 2021

C Pan, and A Humbatova, and L Zheng, and N Cesarato, and C Grimm, and F Chen, and B Blaumeiser, and A Catalán-Lambán, and A Patiño-García, and U Fischer, and R Cheng, and Y Li, and X Yu, and Z Yao, and M Li, and R C Betz
Department of Dermatology, Xinhua Hospital, Shanghai, China.

UI MeSH Term Description Entries
D007039 Hypotrichosis Presence of less than the normal amount of hair. (Dorland, 27th ed) Hypotrichoses
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D055517 snRNP Core Proteins The protein components that constitute the common core of small nuclear ribonucleoprotein particles. These proteins are commonly referred as Sm nuclear antigens due to their antigenic nature. Sm Nuclear Antigens,SNRPN,SNRPN Protein,Sm Core Proteins,SmD Antigen,SmD Autoantigen,Small Nuclear Ribonucleoprotein B,Small Nuclear Ribonucleoprotein Core Proteins,Small Nuclear Ribonucleoprotein D1 Polypeptide 16kDa,Small Nuclear Ribonucleoprotein D2 Polypeptide 16.5kDa,Small Nuclear Ribonucleoprotein D3 Polypeptide 18kDa,Small Nuclear Ribonucleoprotein Polypeptide B',Small Nuclear Ribonucleoprotein Polypeptide B'',Small Nuclear Ribonucleoprotein Polypeptide B2,Small Nuclear Ribonucleoprotein Polypeptide E,Small Nuclear Ribonucleoprotein Polypeptide F,Small Nuclear Ribonucleoprotein Sm D1,Small Nuclear Ribonucleoprotein Sm D2,Small Nuclear Ribonucleoprotein-Associated Protein B,Small Nuclear Ribonucleoprotein-Associated Protein B1,Small Nuclear Ribonucleoprotein-Associated Protein B2,Small Nuclear Ribonucleoprotein-Associated Protein D1,Small Nuclear Ribonucleoprotein-Associated Protein D2,Small Nuclear Ribonucleoprotein-Associated Protein D3,Small Nuclear Ribonucleoprotein-Associated Protein E,Small Nuclear Ribonucleoprotein-Associated Protein F,Small Nuclear Ribonucleoprotein-Associated Protein N,snRNP Core Protein D1,Antigen, SmD,Antigens, Sm Nuclear,Autoantigen, SmD,Core Proteins, Sm,Core Proteins, snRNP,Nuclear Antigens, Sm,Small Nuclear Ribonucleoprotein Associated Protein B,Small Nuclear Ribonucleoprotein Associated Protein B1,Small Nuclear Ribonucleoprotein Associated Protein B2,Small Nuclear Ribonucleoprotein Associated Protein D1,Small Nuclear Ribonucleoprotein Associated Protein D2,Small Nuclear Ribonucleoprotein Associated Protein D3,Small Nuclear Ribonucleoprotein Associated Protein E,Small Nuclear Ribonucleoprotein Associated Protein F,Small Nuclear Ribonucleoprotein Associated Protein N

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