Case Report
Copyright ©The Author(s) 2022.
World J Clin Cases. Sep 16, 2022; 10(26): 9332-9339
Published online Sep 16, 2022. doi: 10.12998/wjcc.v10.i26.9332
Table 1 Deleted OMIM genes in the 16p13.2p12.3 region
ABCC1Deafness, autosomal dominant 77 (?)AD
ABCC6Arterial calcification, generalized, of infancy, 2AR
ABCC6Pseudoxanthoma elasticumAR
ABCC6Pseudoxanthoma elasticum, forme frusteAD
CIITARheumatoid arthritis, susceptibility to
CIITABare lymphocyte syndrome, type II, complementation group AAR
EMP2Nephrotic syndrome, type 10AR
ERCC4XFE progeroid syndromeAR
ERCC4Fanconi anemia, complementation group QAR
ERCC4Xeroderma pigmentosum, type F/Cockayne syndromeAR
GRIN2AEpilepsy, focal, with speech disorder and with or without mental retardationAD, ADIP
LITAFCharcot-Marie-Tooth disease, type 1CAD, H
MYH11Megacystis-microcolon-intestinal hypoperistalsis syndrome 2AR
MYH11Aortic aneurysm, familial thoracic 4AD
MYH11Visceral myopathy 2AD
NDE1Microhydranencephaly (?)AR
NDE1Lissencephaly 4 (with microcephaly)AR
PARNDyskeratosis congenita, autosomal recessive 6AR
PARNPulmonary fibrosis and/or bone marrow failure, telomere-related, 4AD, ADIP
TATTyrosinemia, type IIAR
YY1AP1Grange syndromeAR