Unexpected exome sequencing result: De novo TRPS1 mutation in an infant with infantile scoliosis, mild developmental delay, and history of consanguinity

American Journal of Medical Genetics, Part A

Volumn 164, Issue 5, 2014, Pages 1334-1337

  Casci, Ian ^a   Accousti, William ^b   Lacassie, Yves ^a  

^a LOUISIANA STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b LOUISIANA STATE UNIVERSITY HEALTH SCIENCES CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR; TRPS1 PROTEIN; UNCLASSIFIED DRUG;

BIRTH WEIGHT; BODY HEIGHT; CASE REPORT; CLINODACTYLY; CONSANGUINITY; FAMILY HISTORY; FEMALE; FOLLOW UP; FOOT MALFORMATION; GENE; GENE SEQUENCE; GENETIC SCREENING; GESTATIONAL AGE; HAND PALM; HUMAN; INFANT; INFANTILE SCOLIOSIS; LETTER; MISSENSE MUTATION; MOTOR DYSFUNCTION; NON INVASIVE PROCEDURE; NUCLEAR MAGNETIC RESONANCE IMAGING; PLASTER CAST; PRIORITY JOURNAL; RESPIRATORY DISTRESS; SCOLIOSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SPEECH DELAY; TELECANTHUS; TREATMENT DURATION; TRPS1 GENE; ZYGODACTYLOUS TRIRADIUS;

EID: 84898650605     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36430     Document Type: Letter

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