First-trimester prenatal diagnosis in couple at risk for homozygous achondroplasia

The Lancet

Volumn 344, Issue 8935, 1994, Pages 1511-1512

  Bellus, GaryA ^a   Escallon, CathleenS ^a   Ortiz de Luna, Rosa ^a   Shumway, JosephB ^a   Blakemore, KarinJ ^a   McIntosh, Iain ^a   Francomano, ClairA ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACHONDROPLASIA; ADULT; CASE REPORT; FEMALE; FIRST TRIMESTER PREGNANCY; GENE MUTATION; GENETIC RISK; HOMOZYGOSITY; HUMAN; LETTER; MALE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

EID: 0028124956     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(94)90332-8     Document Type: Letter

References (5)

1. Genetic disorders of the osseous skeleton
2. Localization of the achondroplasia gene to distal 25 Mb of human chromosome 4p
3. The gene for achondroplasia maps to the telomeric region of chromosome 4p
4. Mutations in the transmembrane domain of FGFR-3 cause the most common genetic form of dwarfism, achondroplasia
5. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia