Atypical achondroplasia due to somatic mosaicism for the common thanatophoric dysplasia mutation R248C

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 1, 2012, Pages 247-250

  Takagi, Masaki ^a   Kaneko Schmitt, Saori ^b   Suzumori, Nobuhiro ^c   Nishimura, Gen ^d   Hasegawa, Tomonobu ^a  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Department of Obstetrics and Gynecology   (China)

^c NAGOYA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCES   (Japan)

^d TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ACHONDROPLASIA; APNEA; ARTIFICIAL VENTILATION; BONE BOWING; CASE REPORT; CHILD; FETUS ECHOGRAPHY; FGFR3 GENE; GENE; GENE MUTATION; GRAND MAL SEIZURE; HETEROZYGOSITY; HUMAN; HYDRAMNIOS; LETTER; LIMB MALFORMATION; MALE; MOSAICISM; MOTOR RETARDATION; MUSCLE HYPOTONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; SOMATIC MOSAICISM; THANATOPHORIC DWARFISM; THORAX MALFORMATION;

ACHONDROPLASIA; CHILD, PRESCHOOL; HUMANS; MALE; MOSAICISM; MUTATION; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; THANATOPHORIC DYSPLASIA;

EID: 84355162788     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34358     Document Type: Letter

References (6)

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