Publication

Shiang R, Thompson LM, Zhu YZ, Church DM, Fielder TJ, Bocian M, Winokur ST, Wasmuth JJ, Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell78:335-42 1994
PubMed ID: 7913883

Records Return:  (5) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM08858Female30 YR2104motherACHONDROPLASIA; ACH
GM08859Female1 MO2104probandACHONDROPLASIA; ACH
GM08857Male34 YR2104fatherACHONDROPLASIA; ACH
GM11316Male1 DA1885probandACHONDROPLASIA; ACH
GM11317Male1 DA1885probandACHONDROPLASIA; ACH