Phenotype Variability in Patients Carrying KCNJ 2 Mutations Running title : Kimura et al . ; Phenotype variability in KCNJ 2 mutations

Phenotype Variability in Patients Carrying KCNJ 2 Mutations Running title :

Hiromi Kimura, MD; Jun Zhou, PhD; Mihoko Kawamura, MD; Hideki Itoh, MD, PhD; Yuka Mizusawa, MD; Wei-Guang Ding, MD, PhD; Jie Wu, PhD; Seiko Ohno, MD, PhD; Takeru Makiyama, MD, PhD; Akashi Miyamoto, MD, PhD; Nobu Naiki, MD; Qi Wang, BS; Yu Xie, BS; Tsugutoshi Suzuki, MD, PhD; Shigeru Tateno, MD, PhD; Yoshihide Nakamura, MD, PhD; Wei-Jin Zang, PhD; Makoto Ito, MD, PhD; Hiroshi Matsuura, MD, PhD; ...

Phenotype Variability in Patients Carrying KCNJ 2 Mutations Running

Hiromi Kimura, MD; Jun Zhou, PhD; Mihoko Kawamura, MD; Hideki Itoh, MD, PhD; Yuka Mizusawa, MD; Wei-Guang Ding, MD, PhD; Jie Wu, PhD; Seiko Ohno, MD, PhD; Takeru Makiyama, MD, PhD; Akashi Miyamoto, MD, PhD; Nobu Naiki, MD; Qi Wang, BS; Yu Xie, BS; Tsugutoshi Suzuki, MD, PhD; Shigeru Tateno, MD, PhD; Yoshihide Nakamura, MD, PhD; Wei-Jin Zang, PhD; Makoto Ito, MD, PhD; Hiroshi Matsuura, MD, PhD; ...

BMPR2 Mutations Influence Phenotype More Obviously in Male Patients with Pulmonary Arterial Hypertension Running title: Liu et al.; Genotype-phenotype Relationship in Patients with PAH

Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations.

OBJECTIVES/HYPOTHESIS Enlarged vestibular aqueduct (EVA) and hearing loss are known to be caused by SLC26A4 mutations, but large phenotypic variability exists among patients with biallelic SLC26A4 mutations. Intrafamilial phenotypic variability was analyzed in multiplex EVA families carrying biallelic SLC26A4 mutations to identify the contribution of SLC26A4 mutations and other genetic or envir...

A missense cystic fibrosis transmembrane conductance regulator mutation with variable phenotype.

OBJECTIVE Cystic fibrosis (CF) has variable clinical presentation. Disease severity is partially associated with the type of mutation. The aim of this study was to report genotype-phenotype analysis of the G85E mutation. PATIENTS The phenotype of 12 patients (8 were from the same extended family, and 5 of them were siblings from 2 families) carrying at least one copy of the G85E mutation was ...