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About 15 results

ALLMedicine™ Anauxetic Dysplasia Center

Research & Reviews  6 results

Early prenatal presentation of the cartilage-hair hypoplasia / anauxetic dysplasia spec...
https://doi.org/10.1016/j.ejmg.2021.104162
European Journal of Medical Genetics; Hall CM, Liu B et. al.

Feb 11th, 2021 - Three sibling fetuses identified with limb shortening and thoracic narrowing at twelve weeks' gestation on first trimester ultrasound examination are presented. The parents were non-consanguineous, Caucasian, healthy, of normal stature and had a h...

The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal cha...
https://doi.org/10.1002/ajmg.a.61538
American Journal of Medical Genetics. Part A REFERENCES; Abdulhadi-Atwan M, Klopstock T et. al.

Mar 7th, 2020 - Processing of Precursor RNA 1 (POP1) is a core protein component shared by two essential closely related eukaryotic ribonucleoprotein complexes: RNase MRP (the mitochondrial RNA processing ribonuclease) and RNase P. Recently, five patients harbori...

An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO.
https://doi.org/10.1002/ajmg.a.61267
American Journal of Medical Genetics. Part A; Narayanan DL, Shukla A et. al.

Jun 30th, 2019 - Cartilage hair hypoplasia (CHH), anauxetic dysplasia 1, and anauxetic dysplasia 2 are rare metaphyseal dysplasias caused by biallelic pathogenic variants in RMRP and POP1, which encode the components of RNAse-MRP endoribonuclease complex (RMRP) in...

Anauxetic dysplasia
https://rarediseases.info.nih.gov/diseases/9657/anauxetic-dysplasia

Apr 17th, 2017 - This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Hum...

Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 ...
https://doi.org/10.1111/cge.12964
Clinical Genetics; Barraza-García J, Rivera-Pedroza CI et. al.

Jan 10th, 2017 - Processing of Precursor 1 (POP1) is a large protein common to the ribonuclease-mitochondrial RNA processing (RNase-MRP) and RNase-P (RMRP) endoribonucleoprotein complexes. Although its precise function is unknown, it appears to participate in the ...

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