Osteogenesis imperfecta (18 genes) - UGent

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Full name:	Osteogenesis imperfecta (18 genes) - UGent
Created:	24 Jun 2019 - 09:02
Changed:	02 Aug 2019 - 08:34

Related Diseases

• Bruck syndrome
• Cole-Carpenter syndrome
• Complex lethal osteochondrodysplasia
• High bone mass osteogenesis imperfecta
• Osteogenesis imperfecta type 2
• Osteogenesis imperfecta type 3
• Osteogenesis imperfecta type 4
• Spondyloepimetaphyseal dysplasia with joint laxity

Related Analytes

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
B3GALT6
BMP1
CREB3L1
CRTAP
FKBP10
P3H1
P4HB
PLOD2
PPIB
SEC24D
SERPINF1
SERPINH1
SP7
SPARC
TAPT1
TMEM38B
WNT1
XYLT2