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Table 3 The Involvement of OFDS transcripts in other ciliopathies

From: Update on oral-facial-digital syndromes (OFDS)

GENEa

CILIOPATHIESb

OFD1

OFDI, JBT10, RP23, SGBS2 (?)

TMEM231

OFDIII, MKS11, JBTS20

TCTN3

OFDIV, JBTS18

TMEM216

OFDVI, JBTS2, MKS2

C5ORF42

OFDVI, JBTS17

TMEM107

OFDVI, JBTS (?), MKS13

TBC1D32

OFDIX

SCLT1

OFDIX

WDCPD

BBS15, OFD unclassified, BBS12, MKS6

DDX59

OFD unclassified

  1. a Transcripts find mutated in different b ciliopathies
  2. JBTS (?) No number has been assigned to this JBTS locus
  3. SGBS2 (?) A mutation in the OFD1 gene was identified in affected members of a family with a X-linked mental retardation syndrome comprising macrocephaly and ciliary dysfunction. This phenotype is consistent with SGBS2 mapped to the Xp22 region
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ISSN: 2046-2530

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