- Kostjukovits,
Svetlana (1
January 1993). "Cartilage-Hair
Hypoplasia –
Anauxetic Dysplasia Spectrum Disorders". GeneReviews.
University of Washington,...
-
Biallelic variants in
NEPRO can
cause a very rare
ribosomopathy known as
anauxetic dysplasia type 3,
which is
characterized by
severely impaired skeletal...
-
ribonucleoprotein complexes.
Metaphyseal dysplasia without hypotrichosis (MDWH),
anauxetic dysplasia (AD),
kyphomelic dysplasia (KD),
Omenn syndrome (OS) are diseases...
- PMID 8434618. Horn, D.; Rupprecht, E; Kunze, J; Spranger, J (2001). "
Anauxetic dysplasia, a
spondylometaepiphyseal dysplasia with
extreme dwarfism"....
-
functional impairment predicts phenotype in the
cartilage hair hypoplasia-
anauxetic dysplasia spectrum".
American Journal of
Human Genetics. 81 (3): 519–29...
-
connective tissue diseases.
Mutations in the POP1 gene
result in
severe anauxetic dysplasia. POP1 (gene) has been
shown to
interact with POP4. GRCh38: Ensembl...
- neuralgic; 162100; 40430
Amytrophic lateral sclerosis 12; 613435; OPTN
Anauxetic dysplasia; 607095; RMRP
Androgen insensitivity syndrome; 300068; AR Androgen...
