The PHF6 Mutation c.1A>G; pM1V Causes Börjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys

Anja Ernst, Vang Quy Le, Allan Thomas Højland, Inge Søkilde Pedersen, Tine Høg Sørensen, Lise Lotte Bjerregaard, Troels JB Lyngbye, Ninna Marturin Gammelager, Henrik Krarup, Michael Bjørn Petersen

Research output: Contribution to journalJournal articleResearchpeer-review

4 Citations (Scopus)
Original languageEnglish
JournalMolecular Syndromology
Issue number4
Pages (from-to)181-186
Number of pages6
Publication statusPublished - 2015

Cite this