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Academic Journal

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome.

Subjects: Alopecia/Alopecia/Alopecia/*pathology ; Ichthyosis/Ichthyosis/Ichthyosis/*pathology ; Photophobia/Photophobia/Photophobia/*pathologyIchthyosis follicularis atrichia photophobia syndrome

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2011 May 21; Vol. 6, pp. 29. Date of Electronic Publication: 2011 May 21.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

Gastrointestinal manifestations in Satoyoshi syndrome: a systematic review.

  • Authors : Solís-García Del Pozo J; Department of Internal Medicine, Complejo Hospitalario Universitario de Albacete, Albacete, Spain.; Department of Medical Sciences, Faculty of Medicine, Universidad de Castilla - La Mancha, Albacete, Spain.

Subjects: Alopecia* ; Spasm*; Bone and Bones/Bone and Bones/Bone and Bones/abnormalities Satoyoshi syndrome

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 May 19; Vol. 15 (1), pp. 115. Date of Electronic Publication: 2020 May 19.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

Genetic epidemiology of Woodhouse-Sakati Syndrome in the Greater Middle East region and beyond: a systematic review.

  • Authors : Kohil A; Department of Biomedical Sciences, College of Health Sciences, QU Health, Qatar University, 2713, Doha, Qatar.; Abdallah AM

Subjects: Diabetes Mellitus*; Humans ; Molecular Epidemiology Woodhouse Sakati syndrome

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Jan 31; Vol. 18 (1), pp. 22. Date of Electronic Publication: 2023 Jan 31.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

Increased risk of chronic fatigue and hair loss following COVID-19 in individuals with hypohidrotic ectodermal dysplasia.

  • Authors : Hennig V; Department of Pediatrics, University Hospital Erlangen, University of Erlangen-Nürnberg, Loschgestr. 15, 91054, Erlangen, Germany.; Center for Ectodermal Dysplasias, University Hospital Erlangen, University of Erlangen-Nürnberg, Erlangen, Germany.

Subjects: COVID-19* ; Ectodermal Dysplasia 1, Anhidrotic* ; Fatigue Syndrome, Chronic*

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Sep 03; Vol. 16 (1), pp. 373. Date of Electronic Publication: 2021 Sep 03.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

Treatment of Satoyoshi syndrome: a systematic review.

Subjects: Alopecia/Alopecia/Alopecia/*drug therapy ; Bone and Bones/Bone and Bones/Bone and Bones/*abnormalities ; Diarrhea/Diarrhea/Diarrhea/*drug therapy Satoyoshi syndrome

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2019 Jun 19; Vol. 14 (1), pp. 146. Date of Electronic Publication: 2019 Jun 19.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

FOXN1 deficient nude severe combined immunodeficiency.

  • Authors : Rota IA; Developmental Immunology Group, Department of Paediatrics, University of Oxford, Oxford, UK.; Dhalla F

Subjects: Forkhead Transcription Factors/Forkhead Transcription Factors/Forkhead Transcription Factors/*deficiency ; Forkhead Transcription Factors/Forkhead Transcription Factors/Forkhead Transcription Factors/*metabolism ; Severe Combined Immunodeficiency/Severe Combined Immunodeficiency/Severe Combined Immunodeficiency/*metabolism

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2017 Jan 11; Vol. 12 (1), pp. 6. Date of Electronic Publication: 2017 Jan 11.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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