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 External Resources

 gro-2/94619http://resolver.sub.uni-goettingen.de/purl?gro-2/94619  GRO.publications identifier

 181548https://www.ncbi.nlm.nih.gov/clinvar/variation/181548  NCBI clinvar (181548)

 NM_000142.4https://www.ncbi.nlm.nih.gov/nuccore/NM_000142.4  NCBI nucleotide (NM_000142.4, reused)

 NM_000369https://www.ncbi.nlm.nih.gov/nuccore/NM_000369  NCBI nucleotide (NM_000369, reused)

 NM_003995https://www.ncbi.nlm.nih.gov/nuccore/NM_003995  NCBI nucleotide (NM_003995, reused)

 NM_005633.3https://www.ncbi.nlm.nih.gov/nuccore/NM_005633.3  NCBI nucleotide (NM_005633.3, reused)

 NM_007137https://www.ncbi.nlm.nih.gov/nuccore/NM_007137  NCBI nucleotide (NM_007137, reused)

 NM_017890https://www.ncbi.nlm.nih.gov/nuccore/NM_017890  NCBI nucleotide (NM_017890, reused)

 NM_001168370https://www.ncbi.nlm.nih.gov/nuccore/NM_001168370  NCBI nucleotide (NM_001168370, reused)

 602875https://www.omim.org/entry/602875  OMIM identifier (602875, ACROMESOMELIC DYSPLASIA 1; AMD1)

 216550https://www.omim.org/entry/216550  OMIM identifier (216550, COHEN SYNDROME; COH1)

 273750https://www.omim.org/entry/273750  OMIM identifier (273750, THREE M SYNDROME 1; 3M1)

 0000-0002-4463-3067https://orcid.org/0000-0002-4463-3067  ORCID identifier (Shahida Moosa)

 0000-0003-2777-0198https://orcid.org/0000-0003-2777-0198  ORCID identifier (Gökhan Yigit)

 0000-0003-2589-0364https://orcid.org/0000-0003-2589-0364  ORCID identifier (Bernd Wollnik)

 1/28https://mbexc.uni-goettingen.de/archive/1/28  Research Data Archive (supplemental material)

 05qf3bt68https://ror.org/05qf3bt68  ROR identifier (05qf3bt68, Centre Hospitalo-Universitaire Bab El Oued)

 05xy1nn52https://ror.org/05xy1nn52  ROR identifier (05xy1nn52, Multiscale Bioimaging)

 05bk57929https://ror.org/05bk57929  ROR identifier (05bk57929, Stellenbosch University)

 021ft0n22https://ror.org/021ft0n22  ROR identifier (021ft0n22, University Medical Center Göttingen)

 00rcxh774https://ror.org/00rcxh774  ROR identifier (00rcxh774, University of Cologne)

 SCR_016386https://scicrunch.org/resolver/SCR_016386  SciCrunch identifier (RRID:SCR_016386, Illumina HiSeq 3000/HiSeq 4000 System)

 varbank.ccg.uni-koeln.de/https://varbank.ccg.uni-koeln.de/  Supplemental material (code)

 onlineli...S1.tifhttps://onlinelibrary.wiley.com/action/downloadSupplement?doi=10.1002%2Fajmg.a.62532&file=ajmga62532-sup-0001-Fig+S1.tif  Supplemental material (figure)

 onlineli...S2.tifhttps://onlinelibrary.wiley.com/action/downloadSupplement?doi=10.1002%2Fajmg.a.62532&file=ajmga62532-sup-0002-Fig+S2.tif  Supplemental material (figure)

 onlineli...S3.tifhttps://onlinelibrary.wiley.com/action/downloadSupplement?doi=10.1002%2Fajmg.a.62532&file=ajmga62532-sup-0003-Fig+S3.tif  Supplemental material (figure)

 onlineli...S4.tifhttps://onlinelibrary.wiley.com/action/downloadSupplement?doi=10.1002%2Fajmg.a.62532&file=ajmga62532-sup-0004-Fig+S4.tif  Supplemental material (figure)

 onlineli...S5.tifhttps://onlinelibrary.wiley.com/action/downloadSupplement?doi=10.1002%2Fajmg.a.62532&file=ajmga62532-sup-0005-Fig+S5.tif  Supplemental material (figure)