SOFT syndrome with kohlschutter-Tonz syndrome.

Mondkar, S A; Khadilkar, V; Kasegaonkar, P; Khadilkar, A

Mondkar, S A; Khadilkar, V; Kasegaonkar, P; Khadilkar, A.

Affiliation

Mondkar SA; Growth and Pediatric Endocrinology Unit, Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, Pune, Maharashtra, India.
Khadilkar V; Growth and Pediatric Endocrinology Unit, Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, Pune, Maharashtra, India.
Kasegaonkar P; Department of Neurology, CNS Hospital, Solapur, Maharashtra, India.
Khadilkar A; Growth and Pediatric Endocrinology Unit, Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, Pune, Maharashtra, India.

J Postgrad Med ; 70(1): 56-59, 2024.

Article in En | MEDLINE | ID: mdl-37706418

Subject(s)

Abnormalities, Multiple; Amelogenesis Imperfecta; Dementia; Dwarfism; Epilepsy; Osteochondrodysplasias; Symporters; Male; Infant, Newborn; Humans; Child, Preschool; Amelogenesis Imperfecta/genetics; Abnormalities, Multiple/genetics; Osteochondrodysplasias/genetics; Dwarfism/genetics; Dwarfism/diagnosis; Cytoskeletal Proteins; Cell Cycle Proteins

Key words

Epileptic encephalopathy; POC1A; SLC13A5; short stature; syndromic

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Full text: 1 Database: MEDLINE Main subject: Osteochondrodysplasias / Abnormalities, Multiple / Symporters / Dementia / Dwarfism / Epilepsy / Amelogenesis Imperfecta Limits: Child, preschool / Humans / Male / Newborn Language: En Journal: J Postgrad Med Year: 2024 Type: Article Affiliation country: India

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