Expanding the skeletal phenotype of Loeys-Dietz syndrome

American Journal of Medical Genetics, Part A

Volumn 155, Issue 5, 2011, Pages 1178-1183

  Sousa, Sérgio B ^a,b   Lambot Juhan, Karen ^a   Rio, Marlène ^a   Baujat, Geneviève ^a   Topouchian, Vicken ^a   Hanna, Nadine ^c   Le Merrer, Martine ^a   Brunelle, Francis ^a   Munnich, Arnold ^a   Boileau, Catherine ^a,c   Cormier Daire, Valérie ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^c LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMINO ACID SUBSTITUTION; AORTA DISEASE; AORTIC ROOT DILATATION; ARACHNODACTYLY; ASCENDING AORTA DILATATION; ASTHMA; BLUE SCLERA; BONE AGE; CAMPTODACTYLY; CERVICOOCCIPITAL MALFORMATION; CHILD; CLEFT PALATE; CLINICAL ARTICLE; CONSTIPATION; COXA VALGA; DEVELOPMENTAL DISORDER; DYSCHONDROSTEOSIS; EARDRUM PERFORATION; ECZEMA; EXOPHTHALMOS; FAMILY HISTORY; FEEDING DISORDER; FEMALE; FOOT MALFORMATION; FUNNEL CHEST; GENE; GENE SEQUENCE; HEART LEFT VENTRICLE ANEURYSM; HEART VENTRICLE SEPTUM DEFECT; HETEROZYGOSITY; HIP MALFORMATION; HUMAN; INGUINAL HERNIA; JOINT LAXITY; LETTER; LOEYS DIETZ SYNDROME; MALE; METATARSUS VARUS; MISSENSE MUTATION; MUSCLE HYPOTONIA; PALATE MALFORMATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY TRACT INFECTION; SCHOOL CHILD; SCLERA DISEASE; SCOLIOSIS; SKELETON MALFORMATION; SPINAL CORD COMPRESSION; SPINE FUSION; SPINE MALFORMATION; STRABISMUS; THORAX MALFORMATION; TORTICOLLIS; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 1 GENE; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2 GENE; UMBILICAL HERNIA; VALGUS KNEE;

EID: 79955008459     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33813     Document Type: Letter

References (10)

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