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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Nov 6, 2024. (Total: 233305Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Brachydactyly Type E[original query]
Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.
European journal of human genetics : EJHG 2015 Mar .
Racacho Lemuel, Byrnes Ashley M, MacDonald Heather, Dranse Helen J, Nikkel Sarah M, Allanson Judith, Rosser Elisabeth, Underhill T Michael, Bulman Dennis
IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.
The Journal of clinical endocrinology and metabolism 2017 11 103 (2): 604-614.
Vasques Gabriela A, Funari Mariana F A, Ferreira Frederico M, Aza-Carmona Miriam, Sentchordi-Montané Lucia, Barraza-García Jimena, Lerario Antonio M, Yamamoto Guilherme L, Naslavsky Michel S, Duarte Yeda A O, Bertola Debora R, Heath Karen E, Jorge Alexander A
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