Woodhouse-Sakati syndrome in an Indian patient with a novel pathogenic variant.

Amalnath, S Deepak; Oshima, Junko; Buchan, Jillian G; Paolucci, Sarah

Amalnath, S Deepak; Oshima, Junko; Buchan, Jillian G; Paolucci, Sarah.

Affiliation

Amalnath SD; Department of Medicine, Jawaharlal Institute of Postgraduate Medical Education & Research (JIPMER), India.
Jothivanan; Department of Medicine, Jawaharlal Institute of Postgraduate Medical Education & Research (JIPMER), India.
Oshima J; Department of Laboratory Medicine & Pathology, University of Washington, Seattle, Washington, USA.
Buchan JG; Department of Laboratory Medicine & Pathology, University of Washington, Seattle, Washington, USA.
Paolucci S; Department of Laboratory Medicine & Pathology, University of Washington, Seattle, Washington, USA.

Am J Med Genet A ; 194(1): 100-102, 2024 Jan.

Article in En | MEDLINE | ID: mdl-37706616

Subject(s)

Diabetes Mellitus; Hypogonadism; Intellectual Disability; Humans; Male; Hemoptysis; Nuclear Proteins/genetics; Diabetes Mellitus/diagnosis; Diabetes Mellitus/genetics; Diabetes Mellitus/pathology; Alopecia/complications; Alopecia/diagnosis; Alopecia/genetics; Intellectual Disability/diagnosis; Intellectual Disability/genetics; Intellectual Disability/pathology; Hypogonadism/diagnosis; Hypogonadism/genetics; Hypogonadism/pathology; Ubiquitin-Protein Ligase Complexes

Key words

Indian; Woodhouse-Sakati syndrome; cardiac

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Full text: 1 Database: MEDLINE Main subject: Diabetes Mellitus / Hypogonadism / Intellectual Disability Limits: Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2024 Type: Article Affiliation country: India

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