Case report: further delineation of <i>AEBP1</i>-related Ehlers-Danlos Syndrome (classical-like EDS type 2) in an additional patient and comprehensive clinical and molecular review of the literature.

Yamaguchi, Tomomi; Hayashi, Shujiro; Nagai, So; Uchiyama, Akihiko; Motegi, Sei-Ichiro; Fujikawa, Tomomi; Takiguchi, Yuri; Kosho, Tomoki

Case report: further delineation of AEBP1-related Ehlers-Danlos Syndrome (classical-like EDS type 2) in an additional patient and comprehensive clinical and molecular review of the literature.

Yamaguchi, Tomomi; Hayashi, Shujiro; Nagai, So; Uchiyama, Akihiko; Motegi, Sei-Ichiro; Fujikawa, Tomomi; Takiguchi, Yuri; Kosho, Tomoki.

Affiliation

Yamaguchi T; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
Hayashi S; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
Nagai S; Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto, Japan.
Uchiyama A; Department of Dermatology, Dokkyo Medical University, Mibu, Japan.
Motegi SI; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
Fujikawa T; Problem-Solving Oriented Training Program for Advanced Medical Personnel: NGSD (Next-Generation Super Doctor) Project, Matsumoto, Japan.
Takiguchi Y; Department of Dermatology, Gunma University Graduate School of Medicine, Maebashi, Japan.
Kosho T; Department of Dermatology, Gunma University Graduate School of Medicine, Maebashi, Japan.

Front Genet ; 14: 1102101, 2023.

Article in En | MEDLINE | ID: mdl-37214418

Key words

Ehlers-Danlos Syndrome; adipocyte enhancer binding protein 1 (AEBP1); aortic carboxypeptidase-like protein (ACLP); autosomal recessive; classical-like EDS type 2 (clEDS2); connective tissue disorders

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