英: though insertion
関: 思考障害

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1. 下顎、口、口腔、および咽頭の先天異常congenital anomalies of the jaw mouth oral cavity and pharynx [show details]
…also be part of other syndromes (eg, basal cell nevus syndrome, branchio-oto-renal syndrome, Kabuki syndrome). Abnormalities of the labial frenula occur in both the upper and lower lips. In infancy,…
2. 尋常性白斑：発症機序、臨床的特徴、診断vitiligo pathogenesis clinical features and diagnosis [show details]
…poliosis (decrease or absence of melanin or color in head hair), and hearing loss . Kabuki syndrome – Kabuki syndrome is a rare multisystem disorder caused by mutations in the KMT2D and KDMA6 genes and…
3. 先天性インスリン過剰症の病因、臨床症状、診断pathogenesis clinical presentation and diagnosis of congenital hyperinsulinism [show details]
…have a more severe and persistent form of HI, which may require pancreatectomy . Kabuki syndrome – Kabuki syndrome (; ) is characterized by dysmorphic facial features, skeletal and dermatoglyphic abnormalities …
4. 分類不能型低ガンマグロブリン血症の病因pathogenesis of common variable immunodeficiency [show details]
…disorders, including WHIM, ICF (Immunodeficiency, Centromeric instability, and Facial anomalies) and Kabuki syndromes, were detected, indicating that other inborn errors of immunity can resemble CVID. Mutations…
5. 乳児および小児における低血糖症の原因causes of hypoglycemia in infants and children [show details]
…may also occur in the setting of specific syndromes, such as Beckwith-Wiedemann syndrome or Kabuki syndrome . In neonates with panhypopituitarism, the biochemical response to fasting and the glucagon…