Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations

American Journal of Medical Genetics, Part A

Volumn 170, Issue 1, 2016, Pages 210-216

  Barraza García, Jimena ^a,b   Rivera Pedroza, Carlos Iván ^a   Salamanca, Luis ^a   Belinchón, Alberta ^a,b   López González, Vanesa ^b,c   Sentchordi Montané, Lucía ^a,d   del Pozo, Ángela ^a,b   Santos Simarro, Fernando ^a,b   Campos Barros, Ángel ^a,b   Lapunzina, Pablo ^a,b   Guillén Navarro, Encarna ^b,c,e   González Casado, Isabel ^a   García Miñaur, Sixto ^a,b   Heath, Karen E ^a,b  

^a HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c HOSPITAL UNIVERSITARIO VIRGEN DE LA ARRIXACA   (Spain)

^d HOSPITAL UNIVERSITARIO INFANTA LEONOR   (Spain)

^e CATHOLIC UNIVERSITY OF MURCIA   (Spain)

Author keywords

Centriole; POC1A; Primordial dwarfism; Skeletal dysplasia; SOFT syndrome

Indexed keywords

CELL PROTEIN; CHROMOSOME PROTEIN; GENOMIC DNA; PROTEIN POC1A; UNCLASSIFIED DRUG; POC1A PROTEIN, HUMAN; PROTEIN;

ARTICLE; CASE REPORT; CHILD; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL MALFORMATION; CRANIOTOMY; DISEASE SEVERITY; DNA DETERMINATION; DWARFISM; EVOKED SOMATOSENSORY RESPONSE; FACE PROFILE; FORAMEN MAGNUM STENOSIS; GENE PRODUCT; GROWTH RETARDATION; HOMOZYGOSITY; HUMAN; MALE; MUTATIONAL ANALYSIS; NEXT GENERATION SEQUENCING; NUCLEAR MAGNETIC RESONANCE IMAGING; PATIENT REFERRAL; PHYSICAL EXAMINATION; POC1A GENE; PRESCHOOL CHILD; PRIMORDIAL DWARFISM; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE ONYCHODYSPLASIA FACIAL DYSMORPHISM AND HYPOTRICHOSIS SYNDROME; SKULL DISEASE; SUBGLOTTIC STENOSIS; TRACHEA STENOSIS; ABNORMALITIES; ADOLESCENT; CHONDRODYSPLASIA; CRANIOFACIAL MALFORMATION; GENETICS; HYPOTRICHOSIS; INFANT; MULTIPLE MALFORMATION SYNDROME; MUSCLE ATROPHY; NAIL DISEASES; THORAX;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CRANIOFACIAL ABNORMALITIES; DWARFISM; HUMANS; HYPOTRICHOSIS; INFANT; MALE; MUSCULAR ATROPHY; NAIL DISEASES; OSTEOCHONDRODYSPLASIAS; PROTEINS; THORAX;

EID: 84955688215     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37393     Document Type: Article

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