Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis

Clinical Genetics

Volumn 91, Issue 2, 2017, Pages 333-338

  Bruel, A L ^a,b   Masurel Paulet, A ^a   Riviere J B ^a,b   Duffourd, Y ^a,b   Lehalle, D ^a,b   Bensignor, C ^a   Huet, F ^a   Borgnon, J ^a   Roucher, F ^c   Kuentz, P ^a,b   Deleuze, J F ^d   Thauvin Robinet, C ^a,b   Faivre, L ^a,b   Thevenon, J ^a,b  

^a DIJON UNIVERSITY HOSPITAL   (France)

^b UNIVERSITÉ DE BOURGOGNE   (France)

^c HOSPICES CIVILS DE LYON   (France)

^d DIF   (France)

Author keywords

intellectual disability; MAB21L1; scrotal agenesis; whole exome sequencing

Indexed keywords

GLOBULAR PROTEIN; MAB21L1 PROTEIN; UNCLASSIFIED DRUG; HOMEODOMAIN PROTEIN; MAB21L1 PROTEIN, HUMAN;

AGENESIS; ANTERIOR EYE CHAMBER; ANTEVERTED NOSTRIL; ARTICLE; AUTISM; AUTOSOMAL RECESSIVE INHERITANCE; BUPHTHALMOS; CHILD; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONVERGENT STRABISMUS; CORNEA DYSTROPHY; DANDY WALKER SYNDROME; DEVELOPMENTAL DISORDER; EYE EXAMINATION; EYE MALFORMATION; FACE DYSMORPHIA; FRAMESHIFT MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; HAPLOINSUFFICIENCY; HIRSUTISM; HUMAN; HYPOPLASIA; INFANT; LABORATORY TEST; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PREPUTIAL GLAND; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNATHIA; PSYCHOMOTOR DISORDER; SCHOOL CHILD; SCROTAL AGENESIS; SCROTUM DISORDER; WHOLE EXOME SEQUENCING; ANIMAL; CASE REPORT; EXOME; GENETICS; HOMOZYGOTE; INTELLECTUAL IMPAIRMENT; MOUSE; MULTIPLE MALFORMATION SYNDROME; MUTATION; PATHOLOGY; PHENOTYPE; SCROTUM;

ABNORMALITIES, MULTIPLE; ANIMALS; CHILD; DEVELOPMENTAL DISABILITIES; EXOME; FRAMESHIFT MUTATION; HOMEODOMAIN PROTEINS; HOMOZYGOTE; HUMANS; INTELLECTUAL DISABILITY; MALE; MICE; MUTATION; PHENOTYPE; SCROTUM;

EID: 84973501958     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12794     Document Type: Article

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