短指 (趾) 症 A型 (BDA)
短指 (趾) 症 B型 (BDB)
短指 (趾) 症 C 型 (BDC)
短指 (趾) 症 D型 (BDD)
短指 (趾) 症 E型 (BDE)
高血圧および短指 (趾) 症候群 (HTNB)

Mundlos S

The brachydactylies: a molecular disease family.

Clin Genet 76:123-36 (2009)
DOI:10.1111/j.1399-0004.2009.01238.x

Temtamy SA, Aglan MS

Brachydactyly.

Orphanet J Rare Dis 3:15 (2008)
DOI:10.1186/1750-1172-3-15

Gao B, Guo J, She C, Shu A, Yang M, Tan Z, Yang X, Guo S, Feng G, He L

Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1.

Nat Genet 28:386-8 (2001)
DOI:10.1038/ng577

Byrnes AM, Racacho L, Nikkel SM, Xiao F, MacDonald H, Underhill TM, Bulman DE

Mutations in GDF5 presenting as semidominant brachydactyly A1.

Hum Mutat 31:1155-62 (2010)
DOI:10.1002/humu.21338

Seemann P, Schwappacher R, Kjaer KW, Krakow D, Lehmann K, Dawson K, Stricker S, Pohl J, Ploger F, Staub E, Nickel J, Sebald W, Knaus P, Mundlos S

Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.

J Clin Invest 115:2373-81 (2005)
DOI:10.1172/JCI25118

Polinkovsky A, Robin NH, Thomas JT, Irons M, Lynn A, Goodman FR, Reardon W, Kant SG, Brunner HG, van der Burgt I, Chitayat D, McGaughran J, Donnai D, Luyten FP, Warman ML

Mutations in CDMP1 cause autosomal dominant brachydactyly type C.

Nat Genet 17:18-9 (1997)
DOI:10.1038/ng0997-18

Racacho L, Byrnes AM, MacDonald H, Dranse HJ, Nikkel SM, Allanson J, Rosser E, Underhill TM, Bulman DE

Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.

Eur J Hum Genet 23:1640-5 (2015)
DOI:10.1038/ejhg.2015.38

Lehmann K, Seemann P, Stricker S, Sammar M, Meyer B, Suring K, Majewski F, Tinschert S, Grzeschik KH, Muller D, Knaus P, Nurnberg P, Mundlos S

Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.

Proc Natl Acad Sci U S A 100:12277-82 (2003)
DOI:10.1073/pnas.2133476100

Dathe K, Kjaer KW, Brehm A, Meinecke P, Nurnberg P, Neto JC, Brunoni D, Tommerup N, Ott CE, Klopocki E, Seemann P, Mundlos S

Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.

Am J Hum Genet 84:483-92 (2009)
DOI:10.1016/j.ajhg.2009.03.001

Oldridge M, Fortuna AM, Maringa M, Propping P, Mansour S, Pollitt C, DeChiara TM, Kimble RB, Valenzuela DM, Yancopoulos GD, Wilkie AO

Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B.

Nat Genet 24:275-8 (2000)
DOI:10.1038/73495

Lehmann K, Seemann P, Silan F, Goecke TO, Irgang S, Kjaer KW, Kjaergaard S, Mahoney MJ, Morlot S, Reissner C, Kerr B, Wilkie AO, Mundlos S

A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.

Am J Hum Genet 81:388-96 (2007)
DOI:10.1086/519697

Johnson D, Kan SH, Oldridge M, Trembath RC, Roche P, Esnouf RM, Giele H, Wilkie AO

Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.

Am J Hum Genet 72:984-97 (2003)
DOI:10.1086/374721

Klopocki E, Hennig BP, Dathe K, Koll R, de Ravel T, Baten E, Blom E, Gillerot Y, Weigel JF, Kruger G, Hiort O, Seemann P, Mundlos S

Deletion and point mutations of PTHLH cause brachydactyly type E.

Am J Hum Genet 86:434-9 (2010)
DOI:10.1016/j.ajhg.2010.01.023

Maass PG, Aydin A, Luft FC, Schachterle C, Weise A, Stricker S, Lindschau C, Vaegler M, Qadri F, Toka HR, Schulz H, Krawitz PM, Parkhomchuk D, Hecht J, Hollfinger I, Wefeld-Neuenfeld Y, Bartels-Klein E, Muhl A, Kann M, Schuster H, Chitayat D, Bialer MG, Wienker TF, Ott J, Rittscher K, Liehr T, Jordan J, Plessis G, Tank J, Mai K, Naraghi R, Hodge R, Hopp M, Hattenbach LO, Busjahn A, Rauch A, Vandeput F, Gong M, Ruschendorf F, Hubner N, Haller H, Mundlos S, Bilginturan N, Movsesian MA, Klussmann E, Toka O, Bahring S

PDE3A mutations cause autosomal dominant hypertension with brachydactyly.

Nat Genet 47:647-53 (2015)
DOI:10.1038/ng.3302