J. Pinto-Basto

Type de document

Co-auteur

S. Unger

A. Superti-Furga

S.B. Sousa

G. Soares

E.D. Silva

F. Shapiro

C. Rivolta

M. Quinodoz

V.G. Peter

R. Pescini-Gobert

N. Miyake

N. Matsumoto

G. Ferraz Leal

E.C. Engle

S. A. Di Gioia

B. Campos-Xavier

Source

Serveur académique Lausannois (1)

Mot-clé

tissu (corporel) (1) substitution (1) région (1) métabolisme (1) gène (1) adulte (1) jeune (1) Brésil (1) Development (1) Deletion (1) Defects (1) Case (1) Phenotype (1) Polymerase chain reaction (1) Dysplasia (1) Work (1) Stature, Short (1) Scoliosis (1) Retinal degeneration (1) Retinal (Visual pigment) (1) Possibility (1) Portuguese (1) Patients (1) Microcephaly (1) Metabolism (1) Human beings (1) Legal documents (1) Knots and splices (1) Heredity (1) Grammar, Comparative and general--Case (1)

Documents écrit par J. Pinto-Basto (1) | parle de J. Pinto-Basto (0)

The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene.

V.G. Peter et al.