Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review.
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| Title: | Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review. |
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| Authors: | Sheth J; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India. jayesh.sheth@frige.co.in., Shah S; Royal Institute of Child Neurosciences, Vastrapur, Ahmedabad, India., Datar C; Bharati Hospital and Research Centre, Dhankawadi, Pune, India.; KEM Hospital, Rasta Peth, Pune, India., Bhatt K; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India., Raval P; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India., Nair A; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India., Jain D; Shishu Child Development and Early Intervention Centre, Ahmedabad, India., Shah J; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India., Sheth F; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India., Sheth H; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India. |
| Source: | BMC pediatrics [BMC Pediatr] 2023 Mar 24; Vol. 23 (1), pp. 133. Date of Electronic Publication: 2023 Mar 24. |
| Publication Type: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 100967804 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2431 (Electronic) Linking ISSN: 14712431 NLM ISO Abbreviation: BMC Pediatr Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1471-2431 |
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| DOI: | 10.1186/s12887-023-03955-w |
