PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Endocrinology and Metabolism10.3803/enm.2018.33.2.2522018332252Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical PseudopseudohypoparathyroidismJihong Bae, Hong Seok Choi, So Young Park, Do-Eun Lee, Sihoon Leehttps://synapse.koreamed.org/pdf/10.3803/EnM.2018.33.2.252, https://synapse.koreamed.org/DOIx.php?id=10.3803/EnM.2018.33.2.252, https://synapse.koreamed.org/DOIx.php?id=10.3803/EnM.2018.33.2.252
Clinica Chimica Acta10.1016/j.cca.2015.03.01920154469-14Exome sequencing reveals a novel PTHLH mutation in a Chinese pedigree with brachydactyly type E and short statureJian Wang, Zhigang Wang, Yu An, Chunxing Wu, Yunlan Xu, Qihua Fu, Yiping Shen, Qinghua Zhanghttps://api.elsevier.com/content/article/PII:S0009898115001515?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0009898115001515?httpAccept=text/plain
Mayo Clinic Proceedings10.1016/j.mayocp.2021.05.00920219692303-2304Brachydactyly in PseudopseudohypoparathyroidismClifford M. Csizmar, Meera Shahhttps://api.elsevier.com/content/article/PII:S0025619621004055?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0025619621004055?httpAccept=text/plain
European Journal of Human Genetics10.1038/sj.ejhg.5201708200614121248-1254A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2Katarina Lehmann, Petra Seemann, Jan Boergermann, Gilles Morin, Silke Reif, Petra Knaus, Stefan Mundloshttp://www.nature.com/articles/5201708.pdf, http://www.nature.com/articles/5201708, http://www.nature.com/articles/5201708.pdf
The Journal of Pediatrics10.1016/j.jpeds.2017.12.0832018196321Pseudopseudohypoparathyroidism: A Diagnostic Consideration in a Patient with BrachydactylyPaul Benvenuto, Armen Attarianhttps://api.elsevier.com/content/article/PII:S0022347617317808?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0022347617317808?httpAccept=text/plain
Birth Defects Research Part A: Clinical and Molecular Teratology10.1002/bdra.2335420151036567-572Novel mutation in theBMPR1Bgene (R486L) in a polish family and further delineation of the phenotypic features ofBMPR1B-Related brachydactylyMagdalena Badura-Stronka, Dariusz Mróz, Peter Beighton, Sebastian Łukawiecki, Katarzyna Wicher, Anna Latos-Bieleńska, Kazimierz Kozłowskihttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fbdra.23354, https://onlinelibrary.wiley.com/doi/full/10.1002/bdra.23354
Molecular Syndromology10.1159/00035726420145281-86Novel indel Mutation in the GDF5 Gene Is Associated with Brachydactyly Type C in a Four-Generation Turkish FamilyZ.O. Uyguner, M. Kocaoğlu, G. Toksoy, S. Basaran, H. Kayserilihttps://www.karger.com/Article/Pdf/357264, https://www.karger.com/Article/Pdf/357264
Journal of Human Genetics10.1038/jhg.2015.1722016615457-461Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH geneAleksander Jamsheer, Anna Sowińska-Seidler, Ewelina M Olech, Magdalena Socha, Kazimierz Kozłowski, Antoni Pyrkosz, Tomasz Trzeciak, Anna Materna-Kiryluk, Anna Latos-Bieleńskahttp://www.nature.com/articles/jhg2015172.pdf, http://www.nature.com/articles/jhg2015172, http://www.nature.com/articles/jhg2015172.pdf
American Journal of Medical Genetics Part A10.1002/ajmg.a.203492003124A4356-363Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1Georg C. Schwabe, Seval Türkmen, Gundula Leschik, Sukru Palanduz, Brigitte Stöver, Timm O. Goecke, Stefan Mundloshttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.20349, http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.20349/fullpdf
European Journal of Human Genetics10.1038/ejhg.2015.26620162481132-1136Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomeliaRicarda Flöttmann, Anna Sowinska-Seidler, Julie Lavie, Jean-François Chateil, Didier Lacombe, Stefan Mundlos, Denise Horn, Malte Spielmannhttp://www.nature.com/articles/ejhg2015266.pdf, http://www.nature.com/articles/ejhg2015266, http://www.nature.com/articles/ejhg2015266.pdf