Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus

American Journal of Medical Genetics, Part A

Volumn 155, Issue 5, 2011, Pages 1106-1108

  Prontera, Paolo ^a   Rogaia, Daniela ^a   Sobacchi, Cristina ^b,c   Tavares, Vanessa Luiza Romanelli ^d   Mazzotta, Giovanni ^e   Passos Bueno, Maria Rita ^d   Donti, Emilio ^a  

^a UNIVERSITY OF PERUGIA   (Italy)

^b CNR   (Italy)

^c HUMANITAS CLINICAL AND RESEARCH CENTER   (Italy)

^d UNIVERSITY OF SÃO PAULO   (Brazil)

^e U O Complessa di Neuropsichiatria Infantile e dell'Età Evolutiva   (Italy)

Author keywords

6q21 22; Autosomal recessive; Craniometaphyseal dysplasia; Craniotubular dysplasias; Phenotypic variability

Indexed keywords

CALCIUM;

ADOLESCENT; ARNOLD CHIARI MALFORMATION; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE INHERITANCE; BLINDNESS; BONE DYSPLASIA; BRAIN VENTRICLE DILATATION; BRAZIL; CALCIUM BLOOD LEVEL; CASE REPORT; CHOANA ATRESIA; CHROMOSOME 6Q; CHROMOSOME MAP; COMPUTER ASSISTED TOMOGRAPHY; CONSANGUINEOUS MARRIAGE; CRANIOFACIAL MALFORMATION; CRANIOMETAPHYSEAL DYSPLASIA; FEMALE; FRONTAL BOSSING; GENE LOCUS; HOMOZYGOSITY; HUMAN; HYDROCEPHALUS; HYPEROSTOSIS; HYPERTELORISM; HYPODONTIA; HYPOTROPHY; INTELLECTUAL IMPAIRMENT; JAUNDICE; MACROCEPHALY; MICROCEPHALY; MICROSATELLITE MARKER; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE ATROPHY; OSTEOPENIA; OSTEOSCLEROSIS; PHENOTYPIC VARIATION; PRIORITY JOURNAL; RESPIRATORY DISTRESS; SHORT STATURE; SPEECH DISORDER; TOE MALFORMATION;

BONE DISEASES, DEVELOPMENTAL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 6; FACIAL PARALYSIS; FEMALE; HOMOZYGOTE; HUMANS; OSTEOPOROSIS; SKULL;

EID: 79954988857     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33826     Document Type: Article

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