A new recognizable recessive syndrome with distinct dysmorphism, lymphedema and sensorineural hearing loss caused by carboxypeptidase D mutations

2024-11-0920181018-4813N/AN/Ahttps://hdl.handle.net/20.500.14288/10821N/ABiochemistryMolecular BiologyGeneticsHeredityA new recognizable recessive syndrome with distinct dysmorphism, lymphedema and sensorineural hearing loss caused by carboxypeptidase D mutationsMeeting Abstract1476-5438489312604082Q24488