Summary: A 5-Year-Old Palestinian Bedouin Girl with Repeated Self-Induced Injuries to the Digits, a Diagnosis of Congenital Insensitivity to Pain, and Anhidrosis.

Summary: ATP-citrate lyase promotes axonal transport across species.

Summary: Gorham-Stout Disease with Multiple Bone Involvement-Challenging Diagnosis of a Rare Disease and Literature Review.

Summary: Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature.

Summary: Fludrocortisone for orthostatic hypotension.

Summary: Analysis of genetic variation for a child affected with congenital insensitivity to pain with anhidrosis and albinism by whole genome sequencing.

Summary: Atypical arthritis of the hands : Collagenosis-part 2.

Summary: Sarcoidosis-associated acro-osteolysis.

Summary: Hajdu-Cheney Syndrome: A Systematic Review of the Literature.

Summary: This study evaluated the effectiveness of carbidopa for afferent baroreflex failure (causes fluctuations in blood pressure with episodes of high blood pressure and elevated heart rate in response to stress, exercise, and pain) in patients with familial dysautonomia (genetic disorder that affects the development and survival of certain nerve cells).

Summary: This study tested the safety and efficacy of using l-serine to treat patients hereditary sensory and autonomic neuropathy type 1.