title: Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair.
authors.affiliation: Division of Genetics, Department of Pediatrics, Louisiana State University Health Sciences Center School of Medicine, and Children's Hospital, New Orleans, Louisiana.
authors.forename: Regina M
authors.initials: RM
authors.lastname: Zambrano
authors.affiliation: Division of Genetics, Department of Pediatrics, Louisiana State University Health Sciences Center School of Medicine, and Children's Hospital, New Orleans, Louisiana.
authors.forename: Michael
authors.initials: M
authors.lastname: Marble
authors.affiliation: Division of Endocrinology, Department of Pediatrics, Louisiana State University Health Sciences Center School of Medicine, and Children's Hospital, New Orleans, Louisiana.
authors.forename: Stuart A
authors.initials: SA
authors.lastname: Chalew
authors.affiliation: Division of Cardiology, Department of Pediatrics, Louisiana State University Health Sciences Center School of Medicine, and Children's Hospital, New Orleans, Louisiana.
authors.forename: Christian
authors.initials: C
authors.lastname: Lilje
authors.affiliation: Division of Endocrinology, Department of Pediatrics, Louisiana State University Health Sciences Center School of Medicine, and Children's Hospital, New Orleans, Louisiana.
authors.forename: Alfonso
authors.initials: A
authors.lastname: Vargas
authors.affiliation: Division of Genetics, Department of Pediatrics, Louisiana State University Health Sciences Center School of Medicine, and Children's Hospital, New Orleans, Louisiana.
authors.forename: Yves
authors.initials: Y
authors.lastname: Lacassie
mesh_terms: D002648:Child; D015870:Gene Expression; D006801:Humans; D058247:Loose Anagen Hair Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D009634:Noonan Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation; D054645:Protein Phosphatase 1 / Q000235:genetics*; D000073359:Exome Sequencing
chemical_list: C517188:PPP1CB protein, human; D054645:Protein Phosphatase 1