E26 transformation-specific 1 (ETS1) and friend leukemia integration 1 (FLI1) are members
of the ETS family of transcription factors, of which there are 28 in humans. Both genes are …

This report presents two families with interstitial 11q24. 2q24. 3 deletion, associated with
malformations, hematologic features, and typical facial dysmorphism, observed in Jacobsen …

Jacobsen syndrome (OMIM# 147791) is a rare contiguous gene disorder caused by
deletions in distal 11q. The clinical phenotype is variable and can include dysmorphic …

Ets‐1 is a member of the Ets family of transcription factors and has critical roles in multiple
biological functions. Structural kidney defects occur at an increased frequency in Jacobsen …

Auriculocondylar syndrome (ACS) is a rare craniofacial disorder with mandibular hypoplasia
and question-mark ears (QMEs) as major features. QMEs, consisting of a specific defect at …

The Ames waltzer (av) mouse mutant exhibits auditory and vestibular abnormalities resulting
from mutation of protocadherin 15 (Pcdh15). Ames waltzer has been identified as an animal …

Jacobsen syndrome is a rare genetic disorder associated with a terminal deletion in
chromosome 11. The clinical presentation is variable. Although immunodeficiency has been …

Mutations in the human genes encoding the endothelin ligand-receptor pair EDN3 and
EDNRB cause Waardenburg-Shah syndrome (WS4), which includes congenital hearing …

Clinical manifestations of Jacobsen syndrome (JBS) depend on the size of the 11qter
deletion, which usually varies between∼ 7 and 20 Mb. Typical JBS features include …

The ETS gene Fli-1 is involved in the induction of erythroleukemia in mice by Friend murine
leukemia virus and Ewings sarcoma in children. Mice with a targeted null mutation in the Fli …