Etiology
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Diagnosis
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Blieden LS,
Brandt JD,
Burkhart C,
Chugani HT,
Falchek SJ,
Jain BG,
Juhasz C,
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Luat A,
Pinto A,
Segal E,
Salvin J,
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Therapy
Division of Biochemistry and Metabolism, Medical Genetics Branch, Chinese Medical Association,
Division of Genetics and Metabolism, Child Diseases and Health Care Branch, Chinese Association for Maternal and Child Health,
Division of Genetics and Metabolism, Rare Diseases Committee of Beijing Medical Association
Zhejiang Da Xue Xue Bao Yi Xue Ban
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Ball KL,
Burkhart C,
Eichenfield L,
Fernandez Faith E,
Frieden IJ,
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Gupta D,
Krakowski AC,
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Metry D,
Nelson JS,
Tollefson MM,
Kelly KM
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2021 Jan 1;157(1):98-104.
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PMID: 33175124Free PMC Article
Wilson BN,
John AM,
Handler MZ,
Schwartz RA
J Am Acad Dermatol
2021 Jun;84(6):1667-1676.
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Prognosis
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