Abstract
An adolescent girl and her cousin presented with features of dwarfism, café au lait macules, idiopathic guttate hypomelanosis-like lesions, decreased mentality, and microcephaly. Chromosomal karyotyping confirmed the diagnosis of is a rare autosomal recessive disorder.
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El-Darouti, M.A., Al-Ali, F.M. (2019). Photosensitivity, Pigmentary Changes, and Short Stature. In: Challenging Cases in Dermatology Volume 2. Springer, Cham. https://doi.org/10.1007/978-3-030-21855-3_32
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DOI: https://doi.org/10.1007/978-3-030-21855-3_32
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