Fang-Ling Xia
Biographic Data
| ID | 8268630 |
|---|---|
| NAME | Fang-Ling Xia |
| GIVEN NAMES | Fang-Ling |
| FAMILY NAME | Xia |
| SIGNATURE | XIA F |
| AFFILIATIONS | Children's Hospital of Zhejiang University |
| VERIFIED | No |
| TOTAL WORKS | 1 |
| TOTAL CITATIONS | 0 |
| WORKS AS AUTHOR | 1 |
| WORKS AS EDITOR | 0 |
| FIRST PUBLICATION YEAR | 2022 |
| LATEST PUBLICATION YEAR | 2022 |
| H-INDEX | 0 |
Recombinant Human Growth Hormone Therapy for Childhood Trichorhinophalangeal Syndrome Type I
Trichorhinophalangeal syndrome type I (TRPS I; MIM 190350) is a rare autosomal dominant disorder of congenital malformations due to variants of the gene TRPS1. We reported on an 11-year-old Chinese boy with TRPS I. He had typical clinical findings, including sparse hair, a bulbous nose, a long philtrum, a thin upper lip, and skeletal abnormalities including cone-shaped epiphyses, shortening of the phalanges, and short stature. Trio whole exome se…
No prominent works on this page.
Recombinant Human Growth Hormone Therapy for Childhood Trichorhinophalangeal Syndrome Type I
Trichorhinophalangeal syndrome type I (TRPS I; MIM 190350) is a rare autosomal dominant disorder of congenital malformations due to variants of the gene TRPS1. We reported on an 11-year-old Chinese boy with TRPS I. He had typical clinical findings, including sparse hair, a bulbous nose, a long philtrum, a thin upper lip, and skeletal abnormalities including cone-shaped epiphyses, shortening of the phalanges, and short stature. Trio whole exome se…
Biology (1 work) · Bone age (1 work) · Brachydactyly (1 work) · Endocrinology (1 work) · Exome sequencing (1 work) · Gene (1 work) · Genetic factors in colorectal cancer (1 work) · Genetics (1 work) · Genomic variations and chromosomal abnormalities (1 work) · Genomics and Chromatin Dynamics (1 work)