Severe <scp>SOPH</scp> syndrome due to a novel <i>NBAS</i> mutation in a <scp>27‐year‐old</scp> woman—Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades

Journal
American Journal of Medical Genetics Part A
ISSN
1552-4825
1552-4833
Date Issued
2020
Author(s)
Yves Lacassie
Britt Johnson
Guillermo Lay‐Son
Rita Quintana
Andrew King
Fanny Cortes
Cecilia Alvarez
Ricardo Gomez
Alfonso Vargas
Stuart Chalew
Alejandra King
Sylvia Guardia
Ricardo U. Sorensen
Swaroop Aradhya
Type
Resource Types::text::journal::journal article
Scopus ID
2-s2.0-85083431708
WoS ID
WOS:000529743100001
DOI
URL
URL Institutional Repository
Subjects
combined immunodeficiency

; 

diabetes mellitus

; 

dwarfism and osteolysis

; 

long survival

; 

novel nbas variant

; 

soph syndrome

; 

adult

; 

dwarfism

; 

female

; 

genetic predisposition to disease

; 

humans

; 

immunologic deficiency syndromes

; 

mutation

; 

neoplasm proteins

; 

optic atrophy

; 

pelger-huet anomaly

; 

whole exome sequencing

; 

hemoglobin a1c

; 

human immunoglobulin

; 

nbas protein, human

; 

tumor protein

; 

adolescent

; 

adult

; 

anterior fontanel

; 

article

; 

autosomal recessive disorder

; 

birth weight

; 

body height

; 

bronchitis

; 

case report

; 

cellular immunodeficiency

; 

cesarean section

; 

child

; 

clinical article

; 

color blindness

; 

corpus callosum

; 

disease severity

; 

dizygotic twins

; 

dwarfism

; 

dysplasia

; 

female

; 

fontanel

; 

gene mutation

; 

gestational age

; 

herpes zoster

; 

human

; 

humoral immune deficiency

; 

hyperhidrosis

; 

hypophysis

; 

insulin dependent diabetes mellitus

; 

intrauterine growth retardation

; 

kyphosis

; 

leg fracture

; 

leukocyte disorder

; 

macrocephaly

; 

muscle hypertonia

; 

mutator gene

; 

myopia

; 

nbas gene

; 

nuclear magnetic resonance imaging

; 

optic chiasm

; 

optic nerve atrophy

; 

osteolysis

; 

pediatric intensive care unit

; 

phenotype

; 

photophobia

; 

pleiotropy

; 

pneumonia

; 

pregnancy

; 

preschool child

; 

priority journal

; 

respiratory tract infection

; 

school child

; 

scoliosis

; 

short stature

; 

short stature optic nerve atrophy and pelger huet anomaly syndrome

; 

torticollis

; 

tracheomalacia

; 

whole exome sequencing

; 

young adult

; 

complication

; 

genetic predisposition

; 

genetics

; 

immune deficiency

; 

leukocyte disorder

; 

mutation

; 

optic nerve atrophy

; 

pathology