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    • Gnpat glyceronephosphate O-acyltransferase [ (house mouse)]

    1. https://www.ncbi.nlm.nih.gov
    2. gene

    2024/5/2 -... rhizomelic chondrodysplasia punctata type 2. Orthologous to human GNPAT ... Human ortholog(s) of this gene implicated in rhizomelic chondrodysplasia punctata type ...


    Gene ResultAgps Alkylglycerone phosphate synthase [ (fruit fly)] - NCBI

    1. https://www.ncbi.nlm.nih.gov
    2. gene

    2024/4/26 -... rhizomelic chondrodysplasia punctata and rhizomelic chondrodysplasia punctata type 3. Orthologous to human AGPS (alkylglycerone phosphate synthase) ...


    SHORT STATURE-MICROGNATHIA SYNDROME; SSMG - OMIM

    1. https://omim.org
    2. entry
    1. https://omim.org
    2. entry

    5日前 -The core features of short stature-micrognathia syndrome (SSMG) are intrauterine growth restriction (IUGR), postnatal short stature that is often rhizomelic, ...


    MED-LIFE DISCOVERIES

    https://med-life.ca
    https://med-life.ca

    5日前 -MLD is developing clinical-grade synthetic plasmalogen therapies for the treatment of Rhizomelic Chondrodysplasia Punctata, alzheimer's disease, ...


    Disorders of peroxisome assembly and function | MedLink Neurology

    1. https://www.medlink.com
    2. Articles Listing Page
    1. https://www.medlink.com
    2. Articles Listing Page

    2024/4/14 -Disorders of peroxisome assembly can be divided into two classes: the Zellweger syndrome spectrum and rhizomelic chondrodysplasia punctata. The peroxisome ...


    ORDO:1040 - Metaphyseal anadysplasia - EMBL-EBI

    1. https://www.ebi.ac.uk
    2. ols4
    3. ontologies
    4. ORDO
    5. terms
    1. https://www.ebi.ac.uk
    2. ols4
    3. ontologies
    4. ORDO
    5. terms

    5日前 -A rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first ...


    Zellweger Syndrome: Symptoms, Causes, Diagnosis, Treatment

    1. https://www.healthline.com
    2. health
    3. zellweger-syndrome
    1. https://www.healthline.com
    2. health
    3. zellweger-syndrome

    2024/4/15 -PBDs are divided into two main categories. Zellweger spectrum disorder (ZSD); Rhizomelic chondrodysplasia punctata spectrum. ZSD further divides into three ...


    Support for Cece - Turkey Valley Community School District

    1. https://www.turkey-v.k12.ia.us
    2. article
    1. https://www.turkey-v.k12.ia.us
    2. article

    6日前 -CeCe was diagnosed with RCDP (Rhizomelic Chondrodysplasia Punctata Type 1) prenatally. #TVPride. Find Us. Turkey Valley Community School District3219 Highway ...


    PEROXISOMAL DISORDERS

    1. https://karger.com
    2. books
    3. book
    4. chapter-pdf

    6日前 -It is an autosomal recessive condition characterized by dysmorphology, shortened proximal portions of the extremities (rhizomelic dwarfism), vertebral anomalies ...


    Frequent clinical symptoms of peroxisomal disorders related to age

    1. https://www.researchgate.net
    2. figure
    3. Frequent-clinical-s...

    2024/4/30 -To describe the neurologic profiles of Rhizomelic chondrodysplasia punctata (RCDP); a peroxisomal disorder clinically characterized by skeletal ...