Two Sibs With Bardet-Biedl Syndrome Due to Mutations in BBS12: No Clues for Modulation by a Third Mutation in BBS10

Eelco Dulfer*, Lies H. Hoefsloot, Albertus Timmer, Constantijne Mom, Anthonie J. van Essen

*Corresponding author for this work

Research output: Contribution to journalLetterAcademicpeer-review

6 Citations (Scopus)
Original languageEnglish
Pages (from-to)2666-2669
Number of pages4
JournalAmerican Journal of Medical Genetics. Part A
Volume152A
Issue number10
DOIs
Publication statusPublished - Oct-2010

Keywords

  • MCKUSICK-KAUFMAN-SYNDROME
  • HYDROMETROCOLPOS
  • PROTEINS
  • CRITERIA

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