Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptocytosis

X-linked elliptocytosis with impaired growth is related to mutated AMMECR1

(2017) Lina Basel-Vanagaite et al.   GENE

Inactivation of AMMECR1 is associated with growth, bone, and heart alterations

(2017) Mariana Moysés-Oliveira et al.   HUMAN MUTATION

KCNE4 and KCNE5: K+ channel regulation and cardiac arrhythmogenesis

(2016) Geoffrey W. Abbott   GENE

Alport syndrome: its effects on the glomerular filtration barrier and implications for future treatment

(2014) Judy Savige   JOURNAL OF PHYSIOLOGY-LONDON

Xq22.3-q23 deletion includingACSL4in a patient with intellectual disability

(2013) Anastasia Gazou et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Intellectual disability, midface hypoplasia, facial hypotonia, and alport syndrome are associated with a deletion in Xq22.3

(2010) Jayson D. Rodriguez et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

X-linked recessive nephritis with mental retardation, sensorineural hearing loss, and macrocephaly

(2010) W. Lane M. Robson et al.   CLINICAL GENETICS