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    • Rhizomelic syndrome, Urbach type - Orphanet

    1. https://www.orpha.net
    2. disease
    3. detail
    1. https://www.orpha.net
    2. disease
    3. detail

    2024/4/10 -Disease definition. Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies ...


    Rhizomelic chondrodysplasia punctata type 3 - Orphanet

    1. https://www.orpha.net
    2. disease
    3. detail
    1. https://www.orpha.net
    2. disease
    3. detail

    2024/4/10 -This disease is described under Rhizomelic chondrodysplasia punctata. Detailed information. General public. Article for general public.


    c.147+77_147+121del AND Rhizomelic chondrodysplasia ...

    1. https://www.ncbi.nlm.nih.gov
    2. clinvar
    3. RCV001788383
    1. https://www.ncbi.nlm.nih.gov
    2. clinvar
    3. RCV001788383

    2024/2/28 -147+77_147+121del AND Rhizomelic chondrodysplasia punctata type 5. Germline classification: Benign (1 submission); Last evaluated: Sep 5, 2021; Review status ...


    Peroxisomal Disorders - Children's Health Issues - Merck Manuals

    1. https://www.merckmanuals.com
    2. peroxisomal-disorders
    1. https://www.merckmanuals.com
    2. peroxisomal-disorders

    2024/3/21 -Rhizomelic Chondrodysplasia Punctata. Symptoms of rhizomelic chondrodysplasia punctata begin in infancy and include a sunken appearance of the middle of the ...


    5191 - Gene ResultPEX7 peroxisomal biogenesis factor 7 [ (human)] - NCBI

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

    2024/4/3 -Mutations in PEX7 gene is associated with Rhizomelic chondrodysplasia punctata. Observational study of gene-disease association. (HuGE Navigator); Functional ...


    MR Imaging and MR Spectroscopy in Rhizomelic Chondrodysplasia ...

    1. https://www.ajnr.org
    2. content

    2024/4/1 -MR images. A, Axial T1-weighted image of the basal ganglia shows small delivery-related hemorrhage over the temporal convexity and bilateral areas (arrows) of ...


    Peroxisomal Disorders - Pediatrics - Merck Manual Professional Edition

    1. https://www.merckmanuals.com
    2. peroxisomal-disorders
    1. https://www.merckmanuals.com
    2. peroxisomal-disorders

    2024/3/21 -Rhizomelic Chondrodysplasia Punctata|; X-Linked Adrenoleukodystrophy (ALD)|; Zellweger Syndrome (ZS), Neonatal Adrenoleukodystrophy, and Infantile Refsum ...


    Neonatal Type 1 Rhizomelic Chondrodysplasia Punctata with a ...

    1. https://pacrjournal.org
    2. abstract
    1. https://pacrjournal.org
    2. abstract

    2024/3/27 -Rhizomelic chondrodysplasia punctata type 1 (RCDP) constitutes the group caused by autosomal recessive mutations in the PEX7 gene encoding the PTS2 receptor.


    MED-LIFE DISCOVERIES

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

    4日前 -MLD is developing clinical-grade synthetic plasmalogen therapies for the treatment of Rhizomelic Chondrodysplasia Punctata, alzheimer's disease, ...

    Analytical Services-Plasmalogens-RCDP-Neurological Disorders


    SHORT STATURE-MICROGNATHIA SYNDROME; SSMG - OMIM

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

    4日前 -The core features of short stature-micrognathia syndrome (SSMG) are intrauterine growth restriction (IUGR), postnatal short stature that is often rhizomelic, ...