KEGG   VARIANT: 4038v1
Entry
4038v1                      Variant                                
Name
LRP4 mutation
Type
Loss of function
Gene
LRP4  LDL receptor related protein 4 [KO:K20051]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604270
Network
nt06505  WNT signaling
Disease
H00486  Sclerosteosis
H00853  Cenani-Lenz syndactyly syndrome
Reference
  Authors
Rossi M, Battafarano G, De Martino V, Scillitani A, Minisola S, Del Fattore A
  Title
Looking for new anabolic treatment from rare diseases of bone formation.
  Journal
J Endocrinol 248:R29-R40 (2021)
DOI:10.1530/JOE-20-0285
Reference
  Authors
Huybrechts Y, Mortier G, Boudin E, Van Hul W
  Title
WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders.
  Journal
Front Endocrinol (Lausanne) 11:165 (2020)
DOI:10.3389/fendo.2020.00165
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