1.
Am J Med Genet A
; 170(7): 1930-3, 2016 Jul.
Article
in English
| MEDLINE
| ID: mdl-27159256
Subject(s)
Abnormalities, Multiple/genetics , Alagille Syndrome/genetics , Chromosomes, Human, Pair 20 , Chromosomes, Human, Pair 5 , Fathers , Genomic Imprinting , Mutagenesis, Insertional , Siblings , Child, Preschool , Female , Humans , In Situ Hybridization, Fluorescence , Infant, Newborn , Karyotyping , Male
2.
Am J Med Genet A
; 149A(8): 1823-6, 2009 Aug.
Article
in English
| MEDLINE
| ID: mdl-19610117
3.
Am J Med Genet A
; 146A(4): 450-2, 2008 Feb 15.
Article
in English
| MEDLINE
| ID: mdl-18203178
ABSTRACT
We present a case of a male with severe mental retardation, seizure disorder, and absence/hypoplasia of the thumb and great toe nails. This combination of clinical findings has been reported only once previously. We suggest it represents a distinct syndrome. Our case has the additional finding of broad thumbs.