Slavotinek, Anne M

Expanded spectrum of oculo-auriculo-vertebral spectrum with imperforate anus in a male patient who is negative for SALL1 mutations. [electronic resource] - Clinical dysmorphology Jan 2011 - 11-14 p. digital

Publication Type: Case Reports; Journal Article

1473-5717

10.1097/MCD.0b013e32833f138c doi


Adult
Anus, Imperforate--complications
Child
Child, Preschool
Female
Goldenhar Syndrome--complications
Humans
Infant
Infant, Newborn
Male
Mutation--genetics
Pregnancy
Radiography
Spine--diagnostic imaging
Transcription Factors--genetics