Zhao, Jianhua

A de novo interstitial deletion of 7q31.2q31.31 identified in a girl with developmental delay and hearing loss. [electronic resource] - American journal of medical genetics. Part C, Seminars in medical genetics 06 2016 - 102-8 p. digital

Publication Type: Case Reports; Journal Article

1552-4876

10.1002/ajmg.c.31488 doi


Carrier Proteins--genetics
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 7--genetics
Cystic Fibrosis Transmembrane Conductance Regulator--genetics
Developmental Disabilities--genetics
Female
Genome, Human
Hearing Loss, Sensorineural--genetics
Humans
Membrane Transport Proteins
N-Terminal Acetyltransferase C--genetics
Nerve Tissue Proteins--genetics
Nuclear Proteins
Polymorphism, Single Nucleotide
Proteins--genetics
Ribonucleoprotein, U4-U6 Small Nuclear--genetics