- Tytuł:
- 19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias.
- Autorzy:
- Źródło:
- European journal of human genetics : EJHG [Eur J Hum Genet] 2012 Aug; Vol. 20 (8), pp. 852-6. Date of Electronic Publication: 2012 Feb 29.
- Typ publikacji:
-
Case Reports; Journal Article; Research Support, Non-U.
S . Gov't - MeSH Terms:
-
Chromosome Deletion*
Chromosomes, Human, Pair 19*
Haploinsufficiency*
Carrier Proteins/*genetics
DNA-Binding Proteins/*genetics
Hypospadias/*genetics
ATPases Associated with Diverse Cellular Activities ; Adolescent ; Child ; Comparative Genomic Hybridization ; Developmental Disabilities/genetics ; Facies ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Intellectual Disability/genetics ; Male
Czasopismo naukowe