FIGURE

Fig 1

ID

ZDB-FIG-200702-24

Publication

Blanco-Sánchez et al., 2020 - yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development

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Fig 1

Proband has myelination defects and greatly enlarged nerves.

(A) Pedigree of the family; arrow points to the proband; triangular shapes indicate instances of spontaneous abortion. (B-F) MRI of upper and lower extremities demonstrates enlarged nerves. (B) Image showing greatly enlarged brachial plexus. Arrows indicate the thick peripheral nerves. (C) Sciatic nerve at the level of the femoral head (arrows). (D) Sciatic nerve at the level of the mid-thigh (arrows). (E) Posterior tibial (double arrows) and peroneal (single arrows) nerves at their origins. (F) Posterior tibial (double arrows) and peroneal (single arrows) nerves at the level of the fibular head. Scale bars, 3 cm. (G) Representative brain MRI (axial, T2-weighted) showing poor delineation of white and gray matter, indicating reduced myelination, when compared to age-matched control (H). Note the delineation of white and gray matter in control (arrows) that is not seen in the patient.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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