2019 Oct 21 [updated 2024 May 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
Metaphyseal Dysplasia, Spahr Type; A Case Report of Variable Expressivity in Non-Consanguineous Filipino Siblings.
Panchapakesan K, Roper B, Mowrey K, Hillman P, Younas S.
J Orthop Case Rep. 2022 Sep;12(9):20-25. doi: 10.13107/jocr.2022.v12.i09.2998.
PMID:36873332
Metaphyseal dysplasia, Spahr type: a mimicker of rickets.
Balasubramaniyan M, Kaur A, Sinha A, Gopinathan NR.
BMJ Case Rep. 2019 Aug 13;12(8):e230257. doi: 10.1136/bcr-2019-230257.
PMID:31413057
Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3.
Simsek-Kiper PO, Jacob P, Upadhyai P, Taşkıran ZE, Guleria VS, Karaosmanoglu B, Imren G, Gocmen R, Bhavani GS, Kausthubham N, Shah H, Utine GE, Boduroglu K, Girisha KM.
Hum Mutat. 2022 Dec;43(12):2116-2129. doi: 10.1002/humu.24478. Epub 2022 Oct 8.
PMID:36150098
IMAGe Syndrome.
Schrier Vergano SA, Deardorff MA.
2014 Mar 13 [updated 2021 Aug 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.