A New Pathogenic Variant of CAKUTHED Diagnosed Based on Intellectual Disability

Indian J Pediatr. 2020 Jun;87(6):480-481. doi: 10.1007/s12098-019-03091-3. Epub 2019 Nov 12.

Authors

Shinichiro Morichi¹, Shinji Suzuki², Akiko Kasuga³, Yu Ishida³, Gaku Yamanaka³, Yasuyo Kashiwagi³, Hisashi Kawashima³

Affiliations

¹ Department of Pediatrics and Adolescent Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku-ku, Tokyo, 160-0023, Japan. [email protected].
² Department of Genetics, Tokyo Medical University, Tokyo, Japan.
³ Department of Pediatrics and Adolescent Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku-ku, Tokyo, 160-0023, Japan.

PMID: 31713835
DOI: 10.1007/s12098-019-03091-3

No abstract available

Publication types

Letter

MeSH terms

Child
Developmental Disabilities
Humans
Intellectual Disability* / diagnosis
Intellectual Disability* / genetics
Pedigree