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letter . 2000 Apr;37(4):318–320. doi: 10.1136/jmg.37.4.318
Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: implications for genetic counselling
J FABER
, A WINTERPACHT
, B ZABEL
, W GNOINSKI
, A SCHINZEL
, B STEINMANN
, A SUPERTI-FURGA
J FABER
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A WINTERPACHT
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B ZABEL
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W GNOINSKI
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A SCHINZEL
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B STEINMANN
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A SUPERTI-FURGA
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PMCID: PMC1734568 PMID: 10819645