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  1. Article

    Open Access

    Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

    CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families with bi-allelic variants in CELSR3. Affected individuals presented with an overlap** phe...

    Jil D. Stegmann, Jeshurun C. Kalanithy, Gabriel C. Dworschak… in npj Genomic Medicine (2024)

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  2. No Access

    Article

    A case of early-onset Parkinson’s disease in a patient with KBG syndrome

    Luca Magistrelli, Elena Contaldi, Fjorilda Caushi, Alice Spano… in Neurological Sciences (2023)

  3. Article

    Open Access

    Clinical pitfalls in the diagnosis of segmental overgrowth syndromes: a child with the c.2740G > A mutation in PIK3CA gene

    Overgrowth syndromes are known as a heterogeneous group of conditions characterized by a generalized or segmental, symmetric or asymmetric, overgrowth that may involve several tissues. These disorders, which p...

    Alice Maguolo, Franco Antoniazzi, Alice Spano… in Italian Journal of Pediatrics (2018)

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