Our team wants to do the best we can for everyone we see.
Where I see patients (3)
Third case of Bardet-Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74.
Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Genetics in medicine : official journal of the American College of Medical Genetics
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.
European journal of human genetics : EJHG
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