Primary adrenal insufficiency in two siblings with D-bifunctional protein deficiency
- PMID: 32528852
- PMCID: PMC7280558
- DOI: 10.1016/j.ymgmr.2020.100608
Primary adrenal insufficiency in two siblings with D-bifunctional protein deficiency
References
-
- McMillan H.J., Worthylake T., Schwartzentruber J., Gottlieb C.C., Lawrence S.E., MacKenzie A., Beaulieu C.L., Mooyer P.A.W., Wanders R.J.A., Majewski J. Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency. Orphanet J. Rare Dis. 2012;7:90. - PMC - PubMed
-
- Mizumoto H., Akashi R., Hikita N., Kumakura A., Yoshida Y., Honda A., Shimozawa N., Hata D. Mild case of d-bifunctional protein deficiency associated with novel gene mutations. Pediatr. Int. 2012;54:303–304. - PubMed
-
- Am Demain L., Urquhart J.E., O’Sullivan J., Williams S.G., Bhaskar S.S., Jenkinson E.M., Lourenco C.M., Heiberg A., Pearce S.H., Shalev S.A. Expanding the genotypic spectrum of Perrault syndrome. Clin. Genet. 2017;91:302–312. - PubMed
-
- Farkas A., Al-Ramadhani R., McDonald K., Jordan M., Joyner D. Unusual clinical course and imaging of D-Bifunctional protein deficiency, a rare Leukodystrophy. Pediatr. Neurol. 2019;90:70–71. - PubMed