Connection

BRENDAN LEE to Microcephaly

This is a "connection" page, showing publications BRENDAN LEE has written about Microcephaly.
Connection Strength

0.305
  1. PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature. Am J Med Genet A. 2022 06; 188(6):1868-1874.
    View in: PubMed
    Score: 0.152
  2. Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails. J Hum Genet. 2017 Apr; 62(4):465-471.
    View in: PubMed
    Score: 0.106
  3. C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder. Genet Med. 2025 Jul; 27(7):101429.
    View in: PubMed
    Score: 0.047
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.