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A rare case of fatty acyl‐CoA reductase 1 deficiency in an Indian infant manifesting rhizomelic chondrodystrophy phenotype
Author(s) -
Radha Rama Devi Akella,
Naushad Shaik Mohammad,
Jain Romit,
Lingappa Lokesh
Publication year - 2021
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13934
Subject(s) - phenotype , medicine , reductase , pediatrics , genetics , endocrinology , biology , biochemistry , gene , enzyme